ClinVar Miner

List of variants studied for Methylmalonic acidemia with homocystinuria cblD by Illumina Clinical Services Laboratory,Illumina

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Total variants: 35
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HGVS dbSNP
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.-136G>C
NM_015702.3(MMADHC):c.-145A>G rs12477482
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.-60G>A rs886054923
NM_015702.3(MMADHC):c.-62G>A rs886054924
NM_015702.3(MMADHC):c.-8C>T rs180812156
NM_015702.3(MMADHC):c.10-3T>C rs886054921
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.373G>C (p.Gly125Arg)
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys) rs61746421
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile) rs34886916
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln) rs114276563
NM_015702.3(MMADHC):c.478+6T>G rs13402787
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr) rs147318949
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412
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.73G>T (p.Val25Phe)
NM_015702.3(MMADHC):c.759A>T (p.Gly253=) rs886054920
NM_015702.3(MMADHC):c.800A>G (p.His267Arg) rs753424109
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442

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