ClinVar Miner

List of variants in gene MMADHC reported as benign for Methylmalonic acidemia with homocystinuria cblD

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Total variants: 16
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NM_015702.3(MMADHC):c.*126A>G rs6923
NM_015702.3(MMADHC):c.*164A>G rs147662711
NM_015702.3(MMADHC):c.*89T>C rs6742604
NM_015702.3(MMADHC):c.-49T>C rs79997772
NM_015702.3(MMADHC):c.155-11dup rs1573878813
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys) rs61746421
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.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.617A>G (p.Asn206Ser) rs138607412
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638
NM_015702.3(MMADHC):c.735T>G (p.Thr245=) rs530553915
NM_015702.3(MMADHC):c.846T>C (p.Asn282=)
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442

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