"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "DHH"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1163354	NM_021044.4(DHH):c.1130C>A (p.Pro377Gln)	DHH (P377Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683197	NM_021044.4(DHH):c.936_944dup (p.Arg318_Glu319insValAlaArg)	DHH	Duplication (inframe insertion)	not provided	GUncertain significance
Select item 309099	NM_021044.4(DHH):c.926G>T (p.Arg309Leu)	DHH (R309L)	Single nucleotide variant (missense variant)	46,XY sex reversal 7 +1 more	GUncertain significance
Select item 1163052	NM_021044.4(DHH):c.832G>C (p.Gly278Arg)	DHH (G278R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683198	NM_021044.4(DHH):c.247C>T (p.Pro83Ser)	DHH (P83S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683199	NM_021044.4(DHH):c.227A>G (p.Asp76Gly)	DHH (D76G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar