ClinVar Miner

List of variants in gene SLC45A2 reported as uncertain significance for albinism

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_016180.4(SLC45A2):c.*29C>G rs886060518
NM_016180.4(SLC45A2):c.1032+9C>T rs113928135
NM_016180.4(SLC45A2):c.1076_1077delAG (p.Glu359Valfs) rs753485165
NM_016180.4(SLC45A2):c.1089C>T (p.Tyr363=) rs148156477
NM_016180.4(SLC45A2):c.1090G>A (p.Glu364Lys) rs201140684
NM_016180.4(SLC45A2):c.1156+7C>T rs767910207
NM_016180.4(SLC45A2):c.1157-10C>T rs371152353
NM_016180.4(SLC45A2):c.1325C>T (p.Pro442Leu) rs769448704
NM_016180.4(SLC45A2):c.1351C>T (p.Arg451Cys) rs142175557
NM_016180.4(SLC45A2):c.1533G>A (p.Ala511=) rs373174326
NM_016180.4(SLC45A2):c.232C>A (p.Pro78Thr) rs886060520
NM_016180.4(SLC45A2):c.372T>A (p.Ala124=) rs886060519
NM_016180.4(SLC45A2):c.627A>G (p.Arg209=) rs755956613
NM_016180.5(SLC45A2):c.1567_1574dup (p.Phe525Leufs)

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