ClinVar Miner

List of variants in gene MMADHC reported as benign for Disorders of Intracellular Cobalamin Metabolism

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_015702.3(MMADHC):c.*89T>C rs6742604 0.99742
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_015702.3(MMADHC):c.*126A>G rs6923 0.49161
NM_015702.3(MMADHC):c.478+6T>G rs13402787 0.01622
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys) rs61746421 0.01067
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile) rs34886916 0.01066
NM_015702.3(MMADHC):c.*164A>G rs147662711 0.00973
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln) rs114276563 0.00611
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412 0.00051

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