ClinVar Miner

List of variants studied for Methylmalonic acidemia with homocystinuria cblD by Invitae

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Total variants: 76
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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.10-1G>C
NM_015702.3(MMADHC):c.117G>A (p.Ser39=)
NM_015702.3(MMADHC):c.123G>A (p.Glu41=)
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.192C>A (p.Pro64=)
NM_015702.3(MMADHC):c.207T>C (p.Asp69=)
NM_015702.3(MMADHC):c.295_296del (p.Leu99fs) rs1573878695
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val)
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.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.600C>T (p.Leu200=) rs754142876
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.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.746A>G (p.Tyr249Cys) rs118204046
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter) rs118204048
NM_015702.3(MMADHC):c.764C>G (p.Ser255Cys)
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.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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