ClinVar Miner

List of variants in gene HPS4 reported as benign for albinism

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_022081.5(HPS4):c.*1237_*1246delCGCGCGCGCG rs10573454
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_022081.5(HPS4):c.1327C>G (p.Leu443Val) rs2014410
NM_022081.5(HPS4):c.1654G>A (p.Val552Met) rs5752330
NM_022081.5(HPS4):c.1816C>T (p.His606Tyr) rs1894706
NM_022081.5(HPS4):c.1875G>T (p.Gln625His) rs1894704
NM_022081.5(HPS4):c.686A>G (p.Glu229Gly) rs713998

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