ClinVar Miner

List of variants in gene ABCD1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322 0.00114
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869 0.00061
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955 0.00060
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942 0.00047
NM_000033.4(ABCD1):c.2112G>A (p.Ala704=) rs372309740 0.00046
NM_000033.4(ABCD1):c.1899C>T (p.Ser633=) rs202125585 0.00041
NM_000033.4(ABCD1):c.1581C>T (p.Tyr527=) rs145073701 0.00034
NM_000033.4(ABCD1):c.249C>T (p.Phe83=) rs782628755 0.00023
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=) rs141110958 0.00016
NM_000033.4(ABCD1):c.420C>A (p.Ile140=) rs74315279 0.00014
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp) rs368061976 0.00012
NM_000033.4(ABCD1):c.54G>A (p.Thr18=) rs781855598 0.00010
NM_000033.4(ABCD1):c.1781-5C>G rs781920026 0.00008
NM_000033.4(ABCD1):c.274G>A (p.Gly92Arg) rs201979180 0.00008
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=) rs199723613 0.00007
NM_000033.4(ABCD1):c.1444G>A (p.Val482Ile) rs781806403 0.00006
NM_000033.4(ABCD1):c.1230G>A (p.Thr410=) rs782004836 0.00004
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala) rs781900720 0.00004
NM_000033.4(ABCD1):c.493C>T (p.Arg165Cys) rs781850760 0.00004
NM_000033.4(ABCD1):c.732G>A (p.Ser244=) rs782643462 0.00003
NM_000033.4(ABCD1):c.1629G>A (p.Pro543=) rs782278443 0.00002
NM_000033.4(ABCD1):c.1911C>T (p.Ile637=) rs367901575 0.00002
NM_000033.4(ABCD1):c.110G>T (p.Arg37Leu) rs1257848735 0.00001
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln) rs398123102 0.00001
NM_000033.4(ABCD1):c.2209C>T (p.Pro737Ser) rs1290462360 0.00001
NM_000033.4(ABCD1):c.225C>T (p.Leu75=) rs781883009 0.00001
NM_000033.4(ABCD1):c.297C>T (p.Ala99=) rs889405096 0.00001
NM_000033.4(ABCD1):c.1081+53G>A
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.1527T>A (p.Asn509Lys) rs2091762371
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.4(ABCD1):c.1635-2A>G rs1569541109
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu) rs1603235394
NM_000033.4(ABCD1):c.164dup (p.Glu56fs) rs2148388748
NM_000033.4(ABCD1):c.171C>T (p.Ala57=) rs782317790
NM_000033.4(ABCD1):c.181G>C (p.Ala61Pro) rs782134465
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.1901C>T (p.Ala634Val)
NM_000033.4(ABCD1):c.1945G>A (p.Asp649Asn)
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.2006_2007dup (p.Leu670fs) rs797044625
NM_000033.4(ABCD1):c.201del (p.Met67fs)
NM_000033.4(ABCD1):c.2043C>T (p.Phe681=) rs782327280
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu) rs782701925
NM_000033.4(ABCD1):c.272C>G (p.Thr91Arg)
NM_000033.4(ABCD1):c.338G>A (p.Arg113His) rs1322406234
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr) rs193922097
NM_000033.4(ABCD1):c.469C>G (p.Gln157Glu) rs2148389233
NM_000033.4(ABCD1):c.518T>C (p.Leu173Pro) rs2148389338
NM_000033.4(ABCD1):c.539A>G (p.Tyr180Cys) rs2091708150
NM_000033.4(ABCD1):c.547G>T (p.Val183Phe) rs2148389399
NM_000033.4(ABCD1):c.700C>T (p.Arg234Cys) rs1557052478
NM_000033.4(ABCD1):c.701G>T (p.Arg234Leu) rs782723557
NM_000033.4(ABCD1):c.721_722del (p.Ala241fs)
NM_000033.4(ABCD1):c.748G>C (p.Val250Leu)
NM_000033.4(ABCD1):c.832dup (p.Glu278fs) rs2148389899
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu)
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000033.4(ABCD1):c.900G>C (p.Glu300Asp) rs1569540743
NM_000033.4(ABCD1):c.988C>T (p.Leu330=)

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