ClinVar Miner

List of variants studied for Methylmalonic aciduria and homocystinuria type cblD by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter) rs397509363 0.00002
NM_015702.3(MMADHC):c.696+3_696+6del rs397509364
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter) rs118204048

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