List of variants reported as likely pathogenic for Methylmalonic aciduria and homocystinuria type cblD by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_015702.3(MMADHC):c.10-1G>C	rs1573880177	0.00001
NM_015702.3(MMADHC):c.154+1G>A	rs1385597423	0.00001
NM_015702.3(MMADHC):c.372+1G>A	rs755561981	0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)	rs118204046	0.00001
NM_015702.3(MMADHC):c.10-1G>A
NM_015702.3(MMADHC):c.10-2A>G
NM_015702.3(MMADHC):c.154+1G>C	rs1385597423
NM_015702.3(MMADHC):c.155-2A>G
NM_015702.3(MMADHC):c.373-1G>A	rs764179800
NM_015702.3(MMADHC):c.478+1G>C
NM_015702.3(MMADHC):c.9+1G>A

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