C0238339[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13760	NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)	SPINK1 (N34S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity; association; risk factor
Select item 7139	NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)	CFTR (R334W)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 35821	NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	CFTR, CFTR-AS1 (V456A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 7122	NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)	CFTR, LOC111674475 (R553*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7137	NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)	CFTR (R1162*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 11876	NM_002769.5(PRSS1):c.365G>A (p.Arg122His)	PRSS1, TRB (R122H)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GPathogenic

ClinVar