ClinVar Miner

List of variants in gene HPS3 reported as pathogenic for albinism

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
HPS3, 89-BP INS
NM_032383.5(HPS3):c.0_217+692del
NM_032383.5(HPS3):c.1163+1G>A rs201227603
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) rs121908316
NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter)
NM_032383.5(HPS3):c.1691+2T>G rs281865093

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