ClinVar Miner

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

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Total variants: 45
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HGVS dbSNP
NM_015702.3(MMADHC):c.-8C>T rs180812156
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.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.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.432C>G (p.Ala144=)
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.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.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+8_609+100del rs1553453945
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.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.822A>G (p.Val274=)
NM_015702.3(MMADHC):c.828A>G (p.Val276=) rs937318527
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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