ClinVar Miner

List of variants in gene MYEF2, SLC24A5 studied for oculocutaneous albinism

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_205850.3(SLC24A5):c.641del (p.Leu214fs) rs772398324 0.00003
NM_205850.3(SLC24A5):c.1078+1G>A rs1450652793 0.00001
NM_205850.3(SLC24A5):c.1361dup (p.Leu454fs) rs886037644
NM_205850.3(SLC24A5):c.494C>G (p.Ser165Ter)
NM_205850.3(SLC24A5):c.503C>G (p.Ser168Ter) rs977118193
NM_205850.3(SLC24A5):c.521G>A (p.Arg174Lys) rs1555452572
NM_205850.3(SLC24A5):c.528T>A (p.Cys176Ter) rs1555452574
NM_205850.3(SLC24A5):c.571_572insTAAT (p.Tyr191fs) rs886037642
NM_205850.3(SLC24A5):c.591G>A (p.Trp197Ter) rs886037643

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