List of variants in gene MMADHC studied for classic organic aciduria

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 110

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HGVS	dbSNP
NC_000002.11:g.(?_150443583)_(150443631_?)del
NC_000002.12:g.(?_149569954)_(149587117_?)del
NC_000002.12:g.(?_149569964)_(149587107_?)del
NM_015702.3(MMADHC):c.*126A>G	rs6923
NM_015702.3(MMADHC):c.*164A>G	rs147662711
NM_015702.3(MMADHC):c.*241A>G	rs528409808
NM_015702.3(MMADHC):c.*267T>C	rs546054980
NM_015702.3(MMADHC):c.*89T>C	rs6742604
NM_015702.3(MMADHC):c.-16A>G	rs144111552
NM_015702.3(MMADHC):c.-49T>C	rs79997772
NM_015702.3(MMADHC):c.-52-3C>G	rs886054922
NM_015702.3(MMADHC):c.-8C>T	rs180812156
NM_015702.3(MMADHC):c.10-1G>C
NM_015702.3(MMADHC):c.10-3T>C	rs886054921
NM_015702.3(MMADHC):c.10-9C>G
NM_015702.3(MMADHC):c.117G>A (p.Ser39=)
NM_015702.3(MMADHC):c.123G>A (p.Glu41=)
NM_015702.3(MMADHC):c.133dup (p.Ala45fs)	rs864309740
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro)	rs749521854
NM_015702.3(MMADHC):c.150T>C (p.Asp50=)
NM_015702.3(MMADHC):c.152T>C (p.Ile51Thr)
NM_015702.3(MMADHC):c.154+1G>A	rs1385597423
NM_015702.3(MMADHC):c.155-11dup	rs1573878813
NM_015702.3(MMADHC):c.155-7T>C
NM_015702.3(MMADHC):c.155-8C>G
NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter)	rs118204047
NM_015702.3(MMADHC):c.166G>A (p.Val56Met)
NM_015702.3(MMADHC):c.192C>A (p.Pro64=)
NM_015702.3(MMADHC):c.207T>C (p.Asp69=)
NM_015702.3(MMADHC):c.228dup (p.Asn77fs)	rs864309741
NM_015702.3(MMADHC):c.244T>G (p.Cys82Gly)	rs760590651
NM_015702.3(MMADHC):c.24_25del (p.Arg8fs)	rs1553454436
NM_015702.3(MMADHC):c.254A>G (p.Asn85Ser)	rs767542742
NM_015702.3(MMADHC):c.295_296del (p.Leu99fs)	rs1573878695
NM_015702.3(MMADHC):c.307_324dup (p.Leu103_Ser108dup)	rs397509362
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val)
NM_015702.3(MMADHC):c.372+1G>T
NM_015702.3(MMADHC):c.372+8G>A
NM_015702.3(MMADHC):c.372+8G>C
NM_015702.3(MMADHC):c.373-10dup
NM_015702.3(MMADHC):c.373-8C>A
NM_015702.3(MMADHC):c.373G>C (p.Gly125Arg)
NM_015702.3(MMADHC):c.406A>G (p.Ser136Gly)
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys)	rs61746421
NM_015702.3(MMADHC):c.414A>C (p.Glu138Asp)
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter)	rs397509363
NM_015702.3(MMADHC):c.41A>G (p.Tyr14Cys)	rs756550492
NM_015702.3(MMADHC):c.420C>T (p.Tyr140=)	rs139369078
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile)	rs34886916
NM_015702.3(MMADHC):c.432C>G (p.Ala144=)
NM_015702.3(MMADHC):c.453G>A (p.Gln151=)	rs11545261
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg)	rs146795035
NM_015702.3(MMADHC):c.455dup (p.Cys153fs)	rs864309743
NM_015702.3(MMADHC):c.459T>C (p.Cys153=)
NM_015702.3(MMADHC):c.466T>C (p.Leu156=)
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln)	rs114276563
NM_015702.3(MMADHC):c.478+6T>G	rs13402787
NM_015702.3(MMADHC):c.479-4G>A
NM_015702.3(MMADHC):c.479-7T>A
NM_015702.3(MMADHC):c.507T>C (p.Ala169=)	rs1347714473
NM_015702.3(MMADHC):c.510T>C (p.Asn170=)
NM_015702.3(MMADHC):c.513C>G (p.Gly171=)
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr)	rs147318949
NM_015702.3(MMADHC):c.531T>C (p.Thr177=)	rs369822209
NM_015702.3(MMADHC):c.544dup (p.Thr182fs)
NM_015702.3(MMADHC):c.556_557del (p.Met186fs)
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr)
NM_015702.3(MMADHC):c.561T>G (p.Thr187=)
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)	rs147370143
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer)	rs397509361
NM_015702.3(MMADHC):c.600C>T (p.Leu200=)	rs754142876
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu)	rs1553453961
NM_015702.3(MMADHC):c.609+6T>C
NM_015702.3(MMADHC):c.609+8_609+100del	rs1553453945
NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs)	rs864309742
NM_015702.3(MMADHC):c.610-4G>A	rs776311269
NM_015702.3(MMADHC):c.612C>T (p.Phe204=)	rs1573874420
NM_015702.3(MMADHC):c.615C>T (p.Ile205=)
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser)	rs138607412
NM_015702.3(MMADHC):c.624T>C (p.Ala208=)
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)	rs141093638
NM_015702.3(MMADHC):c.646C>T (p.Arg216Ter)
NM_015702.3(MMADHC):c.666T>C (p.Ala222=)
NM_015702.3(MMADHC):c.672T>C (p.Phe224=)
NM_015702.3(MMADHC):c.684A>C (p.Ser228=)
NM_015702.3(MMADHC):c.696+13C>A
NM_015702.3(MMADHC):c.696+3_696+6del	rs397509364
NM_015702.3(MMADHC):c.697-3C>T
NM_015702.3(MMADHC):c.699T>C (p.Phe233=)
NM_015702.3(MMADHC):c.702dup (p.Gly235fs)
NM_015702.3(MMADHC):c.707C>T (p.Pro236Leu)	rs143753228
NM_015702.3(MMADHC):c.708A>G (p.Pro236=)
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.746A>G (p.Tyr249Cys)	rs118204046
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)	rs118204048
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.822A>G (p.Val274=)
NM_015702.3(MMADHC):c.828A>G (p.Val276=)	rs937318527
NM_015702.3(MMADHC):c.846T>C (p.Asn282=)
NM_015702.3(MMADHC):c.855A>T (p.Pro285=)	rs768988562
NM_015702.3(MMADHC):c.869T>G (p.Met290Arg)
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn)	rs61750442
NM_015702.3(MMADHC):c.885A>G (p.Gly295=)
NM_015702.3(MMADHC):c.90C>G (p.Ala30=)
NM_015702.3(MMADHC):c.99T>C (p.Thr33=)

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