ClinVar Miner

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

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Total variants: 42
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HGVS dbSNP
NM_052845.4(MMAB):c.-4G>C rs372195202
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg) rs146668962
NM_052845.4(MMAB):c.116G>A (p.Gly39Asp)
NM_052845.4(MMAB):c.14G>A (p.Gly5Asp)
NM_052845.4(MMAB):c.150G>A (p.Ser50=) rs754357121
NM_052845.4(MMAB):c.184A>G (p.Thr62Ala)
NM_052845.4(MMAB):c.197-1G>T rs763935916
NM_052845.4(MMAB):c.206G>C (p.Ser69Thr)
NM_052845.4(MMAB):c.288T>C (p.Ile96=) rs62000414
NM_052845.4(MMAB):c.291-1G>A rs199971687
NM_052845.4(MMAB):c.298C>T (p.Leu100=)
NM_052845.4(MMAB):c.349-10C>T rs896742047
NM_052845.4(MMAB):c.349-9G>A
NM_052845.4(MMAB):c.370G>A (p.Val124Ile)
NM_052845.4(MMAB):c.372C>T (p.Val124=)
NM_052845.4(MMAB):c.378G>A (p.Ser126=)
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg) rs147457956
NM_052845.4(MMAB):c.401C>T (p.Ser134Leu)
NM_052845.4(MMAB):c.402G>A (p.Ser134=) rs756766385
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr) rs35648932
NM_052845.4(MMAB):c.406C>A (p.Arg136=) rs763783083
NM_052845.4(MMAB):c.44G>A (p.Arg15His)
NM_052845.4(MMAB):c.503C>T (p.Thr168Met)
NM_052845.4(MMAB):c.516G>T (p.Leu172=) rs914000089
NM_052845.4(MMAB):c.522G>A (p.Ser174=) rs545625368
NM_052845.4(MMAB):c.539C>T (p.Ser180Leu)
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784
NM_052845.4(MMAB):c.561C>T (p.Ala187=) rs370773720
NM_052845.4(MMAB):c.56G>A (p.Arg19His) rs10774775
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990
NM_052845.4(MMAB):c.576C>T (p.Ala192=)
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.57C>T (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.583C>T (p.Arg195Cys) rs199853576
NM_052845.4(MMAB):c.584+6A>G
NM_052845.4(MMAB):c.584G>A (p.Arg195His) rs756195708
NM_052845.4(MMAB):c.620C>T (p.Ala207Val) rs61739388
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005
NM_052845.4(MMAB):c.665C>T (p.Thr222Met)
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) rs369296618
NM_052845.4(MMAB):c.732G>A (p.Ser244=) rs186864802
NM_052845.4(MMAB):c.99G>A (p.Gln33=) rs749127574

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