ClinVar Miner

List of variants in gene HPS4 reported as likely benign for albinism

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_022081.5(HPS4):c.*1589C>A rs117397456
NM_022081.5(HPS4):c.-530A>G rs3747137
NM_152841.2(HPS4):c.1045T>A (p.Ser349Thr) rs114685298
NM_152841.2(HPS4):c.1045_1046delinsAG (p.Ser349=) rs386820399
NM_152841.2(HPS4):c.1046C>G (p.Ser349Cys) rs116769827
NM_152841.2(HPS4):c.1868G>A (p.Arg623His) rs78892693
NM_152841.2(HPS4):c.1884C>T (p.Val628=) rs35993959
NM_152841.2(HPS4):c.2064C>T (p.Ser688=) rs138189133
NM_152841.2(HPS4):c.235A>G (p.Ile79Val) rs149830675
NM_152841.2(HPS4):c.543G>A (p.Ser181=) rs13054747
NM_152841.2(HPS4):c.681G>A (p.Pro227=) rs3747132
NM_152841.2(HPS4):c.695C>T (p.Ala232Val) rs77597168
NM_152841.2(HPS4):c.736A>T (p.Thr246Ser) rs34962745

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