ClinVar Miner

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

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_022081.5(HPS4):c.*1589C>A rs117397456
NM_022081.5(HPS4):c.-530A>G rs3747137
NM_022081.5(HPS4):c.1060T>A (p.Ser354Thr) rs114685298
NM_022081.5(HPS4):c.1060_1061delTCinsAG (p.Ser354=) rs386820399
NM_022081.5(HPS4):c.1061C>G (p.Ser354Cys) rs116769827
NM_022081.5(HPS4):c.1883G>A (p.Arg628His) rs78892693
NM_022081.5(HPS4):c.1899C>T (p.Val633=) rs35993959
NM_022081.5(HPS4):c.2079C>T (p.Ser693=) rs138189133
NM_022081.5(HPS4):c.250A>G (p.Ile84Val) rs149830675
NM_022081.5(HPS4):c.558G>A (p.Ser186=) rs13054747
NM_022081.5(HPS4):c.696G>A (p.Pro232=) rs3747132
NM_022081.5(HPS4):c.710C>T (p.Ala237Val) rs77597168

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