ClinVar Miner

List of variants in gene MMADHC reported as uncertain significance for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP
NM_015702.3(MMADHC):c.*241A>G rs528409808
NM_015702.3(MMADHC):c.*267T>C rs546054980
NM_015702.3(MMADHC):c.-16A>G rs144111552
NM_015702.3(MMADHC):c.-52-3C>G rs886054922
NM_015702.3(MMADHC):c.10-3T>C rs886054921
NM_015702.3(MMADHC):c.10-9C>G
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro) rs749521854
NM_015702.3(MMADHC):c.152T>C (p.Ile51Thr)
NM_015702.3(MMADHC):c.166G>A (p.Val56Met)
NM_015702.3(MMADHC):c.244T>G (p.Cys82Gly) rs760590651
NM_015702.3(MMADHC):c.254A>G (p.Asn85Ser) rs767542742
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val)
NM_015702.3(MMADHC):c.373G>C (p.Gly125Arg)
NM_015702.3(MMADHC):c.406A>G (p.Ser136Gly)
NM_015702.3(MMADHC):c.414A>C (p.Glu138Asp)
NM_015702.3(MMADHC):c.41A>G (p.Tyr14Cys) rs756550492
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg) rs146795035
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr) rs147318949
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr)
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu) rs1553453961
NM_015702.3(MMADHC):c.609+6T>C
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638
NM_015702.3(MMADHC):c.696+13C>A
NM_015702.3(MMADHC):c.697-3C>T
NM_015702.3(MMADHC):c.699T>C (p.Phe233=)
NM_015702.3(MMADHC):c.735T>G (p.Thr245=) rs530553915
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly)
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe)
NM_015702.3(MMADHC):c.743G>A (p.Arg248His) rs756858861
NM_015702.3(MMADHC):c.759A>T (p.Gly253=) rs886054920
NM_015702.3(MMADHC):c.764C>G (p.Ser255Cys)
NM_015702.3(MMADHC):c.800A>G (p.His267Arg) rs753424109
NM_015702.3(MMADHC):c.869T>G (p.Met290Arg)

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