ClinVar Miner

List of variants in gene SLC45A2 studied for albinism

Included ClinVar conditions (43):
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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP
NM_016180.3(SLC45A2):c.264delC rs775387808
NM_016180.4(SLC45A2):c.*29C>G rs886060518
NM_016180.4(SLC45A2):c.[1454T>C];[264delC]
NM_016180.5(SLC45A2):c.1032+9C>T rs113928135
NM_016180.5(SLC45A2):c.1074_1075AG[1] (p.Glu359fs) rs753485165
NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro) rs121912619
NM_016180.5(SLC45A2):c.1089C>T (p.Tyr363=) rs148156477
NM_016180.5(SLC45A2):c.1090G>A (p.Glu364Lys) rs201140684
NM_016180.5(SLC45A2):c.1121del (p.Leu374fs) rs730880271
NM_016180.5(SLC45A2):c.1156+7C>T rs767910207
NM_016180.5(SLC45A2):c.1157-10C>T rs371152353
NM_016180.5(SLC45A2):c.1273del (p.Leu425fs) rs759411189
NM_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu) rs769448704
NM_016180.5(SLC45A2):c.1351C>T (p.Arg451Cys) rs142175557
NM_016180.5(SLC45A2):c.1368+1G>T rs1294369944
NM_016180.5(SLC45A2):c.1457C>T (p.Ala486Val) rs121912620
NM_016180.5(SLC45A2):c.149C>A (p.Ala50Glu)
NM_016180.5(SLC45A2):c.1532C>T (p.Ala511Val) rs748872789
NM_016180.5(SLC45A2):c.1533G>A (p.Ala511=) rs373174326
NM_016180.5(SLC45A2):c.1567_1574dup (p.Phe525fs) rs780732891
NM_016180.5(SLC45A2):c.163dup (p.Tyr55fs) rs1057518722
NM_016180.5(SLC45A2):c.187G>T (p.Val63Leu)
NM_016180.5(SLC45A2):c.191G>T (p.Gly64Val)
NM_016180.5(SLC45A2):c.210C>A (p.Tyr70Ter) rs562624441
NM_016180.5(SLC45A2):c.232C>A (p.Pro78Thr) rs886060520
NM_016180.5(SLC45A2):c.372T>A (p.Ala124=) rs886060519
NM_016180.5(SLC45A2):c.469G>A (p.Asp157Asn) rs121912621
NM_016180.5(SLC45A2):c.563-1G>A rs730880270
NM_016180.5(SLC45A2):c.578T>G (p.Leu193Arg) rs797045970
NM_016180.5(SLC45A2):c.627A>G (p.Arg209=) rs755956613
NM_016180.5(SLC45A2):c.656_658TCT[2] (p.Phe221del) rs387906318
NM_016180.5(SLC45A2):c.814G>A (p.Glu272Lys) rs26722
NM_016180.5(SLC45A2):c.986del (p.Thr329fs) rs387906317

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