ClinVar Miner

List of variants in gene ABCD1 reported by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Total variants: 14
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HGVS dbSNP
NM_000033.4(ABCD1):c.*8G>C rs2229539
NM_000033.4(ABCD1):c.1393+31C>T rs73633774
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1440del (p.Ile481fs) rs1557054318
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=) rs41314153
NM_000033.4(ABCD1):c.1621_1628del (p.Tyr541fs) rs1569541093
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1658T>C (p.Leu553Pro) rs1557054849
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln) rs1557054873
NM_000033.4(ABCD1):c.1865+11C>T rs781956636
NM_000033.4(ABCD1):c.1992-32C>T rs4898368
NM_000033.4(ABCD1):c.524T>A (p.Phe175Tyr) rs1569540700
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000033.4(ABCD1):c.853C>T (p.Arg285Cys) rs782334088

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