ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_005050.4(ABCD4):c.1056G>A (p.Leu352=) rs542032495
NM_005050.4(ABCD4):c.1083C>T (p.Cys361=) rs377583331
NM_005050.4(ABCD4):c.1118+9C>T rs370581068
NM_005050.4(ABCD4):c.1230G>A (p.Lys410=) rs145155300
NM_005050.4(ABCD4):c.12G>C (p.Ala4=)
NM_005050.4(ABCD4):c.1317G>A (p.Thr439=)
NM_005050.4(ABCD4):c.1327+8C>T rs199678602
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335
NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe) rs147446660
NM_005050.4(ABCD4):c.1422G>T (p.Val474=)
NM_005050.4(ABCD4):c.1495T>C (p.Leu499=) rs561519173
NM_005050.4(ABCD4):c.1498G>A (p.Ala500Thr)
NM_005050.4(ABCD4):c.158-7C>A rs557930358
NM_005050.4(ABCD4):c.1637-10G>A rs201148020
NM_005050.4(ABCD4):c.1680C>T (p.Ser560=)
NM_005050.4(ABCD4):c.1704G>A (p.Gln568=) rs141766346
NM_005050.4(ABCD4):c.1752+7G>A rs376322555
NM_005050.4(ABCD4):c.249A>G (p.Thr83=) rs773214307
NM_005050.4(ABCD4):c.24C>G (p.Pro8=)
NM_005050.4(ABCD4):c.360C>T (p.His120=)
NM_005050.4(ABCD4):c.374G>A (p.Arg125Gln)
NM_005050.4(ABCD4):c.425+7G>A rs375608814
NM_005050.4(ABCD4):c.447C>T (p.Asp149=)
NM_005050.4(ABCD4):c.504G>A (p.Pro168=)
NM_005050.4(ABCD4):c.518A>G (p.Tyr173Cys) rs188205145
NM_005050.4(ABCD4):c.555C>T (p.Leu185=) rs188108983
NM_005050.4(ABCD4):c.57A>G (p.Gln19=) rs574817590
NM_005050.4(ABCD4):c.699G>A (p.Ala233=)
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys) rs141868117
NM_005050.4(ABCD4):c.775A>T (p.Thr259Ser) rs201664321
NM_005050.4(ABCD4):c.998C>T (p.Thr333Met)

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