ClinVar Miner

List of variants in gene ABCD4 reported as benign for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_005050.4(ABCD4):c.1023G>A (p.Thr341=) rs35522023
NM_005050.4(ABCD4):c.1028+6G>T rs115783644
NM_005050.4(ABCD4):c.1042C>T (p.Arg348Trp) rs147795328
NM_005050.4(ABCD4):c.1043G>A (p.Arg348Gln) rs147100216
NM_005050.4(ABCD4):c.1049C>G (p.Thr350Arg) rs35073715
NM_005050.4(ABCD4):c.10G>C (p.Ala4Pro) rs139863822
NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys) rs3742801
NM_005050.4(ABCD4):c.1302G>A (p.Leu434=) rs11845976
NM_005050.4(ABCD4):c.1533C>T (p.Gly511=) rs57773157
NM_005050.4(ABCD4):c.1560-12A>C rs74061802
NM_005050.4(ABCD4):c.1636+10C>T rs74061801
NM_005050.4(ABCD4):c.1736G>A (p.Arg579Gln) rs143288344
NM_005050.4(ABCD4):c.1752+5C>T rs370270229
NM_005050.4(ABCD4):c.176A>G (p.Gln59Arg) rs58272575
NM_005050.4(ABCD4):c.184T>C (p.Leu62=) rs2301345
NM_005050.4(ABCD4):c.195T>C (p.Ser65=) rs35417609
NM_005050.4(ABCD4):c.383C>T (p.Ala128Val) rs61744947
NM_005050.4(ABCD4):c.492C>G (p.Leu164=) rs36031534
NM_005050.4(ABCD4):c.514G>A (p.Val172Ile) rs34992370
NM_005050.4(ABCD4):c.668+7C>T rs61757464
NM_005050.4(ABCD4):c.669-11_669-8del rs373949463
NM_005050.4(ABCD4):c.669-13T>G rs144451801
NM_005050.4(ABCD4):c.669-6G>T rs115029507
NM_005050.4(ABCD4):c.815-13G>C rs74063815
NM_005050.4(ABCD4):c.858C>T (p.Tyr286=) rs1052000
NM_005050.4(ABCD4):c.910G>A (p.Ala304Thr) rs4148077
NM_005050.4(ABCD4):c.981C>A (p.Leu327=) rs4148078

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