ClinVar Miner

List of variants in gene HPS4 reported as benign for albinism

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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NM_022081.5(HPS4):c.*1613C>A rs3752589
NM_022081.5(HPS4):c.-253C>T rs3747134
NM_022081.5(HPS4):c.-296T>C rs5761557
NM_022081.5(HPS4):c.-662G>T rs968425
NM_152841.2(HPS4):c.*1229_*1230CG[4] rs10573454
NM_152841.2(HPS4):c.1312C>G (p.Leu438Val) rs2014410
NM_152841.2(HPS4):c.1639G>A (p.Val547Met) rs5752330
NM_152841.2(HPS4):c.1801C>T (p.His601Tyr) rs1894706
NM_152841.2(HPS4):c.1860G>T (p.Gln620His) rs1894704
NM_152841.2(HPS4):c.671A>G (p.Glu224Gly) rs713998

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