ClinVar Miner

List of variants in gene SLC45A2 reported as likely 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
NM_016180.3(SLC45A2):c.264delC rs775387808
NM_016180.4(SLC45A2):c.[1454T>C];[264delC]
NM_016180.5(SLC45A2):c.149C>A (p.Ala50Glu)
NM_016180.5(SLC45A2):c.1532C>T (p.Ala511Val) rs748872789
NM_016180.5(SLC45A2):c.191G>T (p.Gly64Val)
NM_016180.5(SLC45A2):c.578T>G (p.Leu193Arg) rs797045970

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