ClinVar Miner

List of variants studied for Vitamin B12-responsive methylmalonic acidemia type cblA by Natera, Inc.

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Total variants: 38
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HGVS dbSNP
NM_172250.3(MMAA):c.-4G>A
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe) rs199749473
NM_172250.3(MMAA):c.102C>T (p.Leu34=) rs146372922
NM_172250.3(MMAA):c.1044A>C (p.Leu348=)
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter) rs999844958
NM_172250.3(MMAA):c.1078C>T (p.Arg360Trp) rs6812252
NM_172250.3(MMAA):c.1089G>C (p.Gln363His) rs2270655
NM_172250.3(MMAA):c.1121G>A (p.Ser374Asn) rs778178659
NM_172250.3(MMAA):c.129G>A (p.Pro43=) rs779779664
NM_172250.3(MMAA):c.138T>C (p.Ser46=) rs34702224
NM_172250.3(MMAA):c.175G>C (p.Asp59His) rs371779800
NM_172250.3(MMAA):c.208A>C (p.Thr70Pro)
NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe)
NM_172250.3(MMAA):c.367C>T (p.Leu123Phe)
NM_172250.3(MMAA):c.373A>G (p.Lys125Glu)
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) rs796051992
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser)
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851
NM_172250.3(MMAA):c.440-4G>A
NM_172250.3(MMAA):c.57A>G (p.Ala19=) rs143211378
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter) rs765799472
NM_172250.3(MMAA):c.65G>T (p.Arg22Leu)
NM_172250.3(MMAA):c.67T>C (p.Cys23Arg)
NM_172250.3(MMAA):c.722T>C (p.Ile241Thr)
NM_172250.3(MMAA):c.734-7A>G
NM_172250.3(MMAA):c.746C>T (p.Ser249Leu)
NM_172250.3(MMAA):c.747G>A (p.Ser249=) rs11721553
NM_172250.3(MMAA):c.800C>T (p.Ala267Val) rs138854691
NM_172250.3(MMAA):c.824T>C (p.Ile275Thr)
NM_172250.3(MMAA):c.850G>C (p.Asp284His)
NM_172250.3(MMAA):c.86A>G (p.His29Arg)
NM_172250.3(MMAA):c.879A>G (p.Gly293=) rs146352309
NM_172250.3(MMAA):c.928C>G (p.Leu310Val)
NM_172250.3(MMAA):c.92G>A (p.Ser31Asn)
NM_172250.3(MMAA):c.966A>G (p.Pro322=) rs150692463
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln) rs140031911

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