ClinVar Miner

List of variants in gene ABCD1 reported by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=) rs41314153 0.08321
NM_000033.4(ABCD1):c.696G>T (p.Ala232=) rs147595334 0.00357
NM_000033.4(ABCD1):c.601G>A (p.Val201Met) rs139415350 0.00048
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=) rs150878397 0.00019
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu) rs128624225 0.00001
NM_000033.4(ABCD1):c.818C>T (p.Ala273Val) rs868992338 0.00001
NM_000033.4(ABCD1):c.1072T>C (p.Ser358Pro)
NM_000033.4(ABCD1):c.1082-23C>G rs2148395325
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1183G>C (p.Ala395Pro) rs1557054176
NM_000033.4(ABCD1):c.1224G>C (p.Glu408Asp) rs2148395507
NM_000033.4(ABCD1):c.1237G>C (p.Ala413Pro) rs1569541011
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1440del (p.Ile481fs) rs1557054318
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met) rs1569541035
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1514T>C (p.Ile505Thr) rs1557054740
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His) rs201568579
NM_000033.4(ABCD1):c.1763T>A (p.Ile588Asn) rs1569541122
NM_000033.4(ABCD1):c.1807del (p.Asp603fs)
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys) rs150346282
NM_000033.4(ABCD1):c.1832A>G (p.Gln611Arg) rs1569541194
NM_000033.4(ABCD1):c.1866-11C>A rs782126372
NM_000033.4(ABCD1):c.1970_1972del (p.Ile657del) rs2148399308
NM_000033.4(ABCD1):c.355G>C (p.Ala119Pro) rs781846746
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys) rs1569540693
NM_000033.4(ABCD1):c.498_520del (p.Val167fs) rs398123112
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000033.4(ABCD1):c.838C>G (p.Arg280Gly) rs193922098

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