List of variants reported as uncertain significance for Cobalamin C disease by Revvity Omics, Revvity

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)	rs200300254	0.00123
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)	rs201312386	0.00019
NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser)	rs781133955	0.00005
NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr)	rs370229341	0.00004
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)	rs765822392	0.00002
NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)
NM_015506.3(MMACHC):c.52C>T (p.Pro18Ser)
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro)	rs371753672
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)	rs564280688
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)	rs201025783

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