ClinVar Miner

List of variants reported as uncertain significance for Methylmalonic acidemia with homocystinuria cblD by Natera, Inc.

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Total variants: 7
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HGVS dbSNP
NM_015702.3(MMADHC):c.10-9C>G
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg) rs146795035
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143
NM_015702.3(MMADHC):c.735T>G (p.Thr245=) rs530553915
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe)
NM_015702.3(MMADHC):c.743G>A (p.Arg248His) rs756858861
NM_015702.3(MMADHC):c.869T>G (p.Met290Arg)

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