ClinVar Miner

List of variants studied for Vitamin B12-responsive methylmalonic acidemia type cblB by Invitae

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ClinVar version:
Total variants: 119
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HGVS dbSNP
NC_000012.12:g.(?_109561020)_(109565196_?)del
NM_052845.3(MMAB):c.-180C>T rs66486014
NM_052845.4(MMAB):c.105C>T (p.Arg35=)
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg) rs146668962
NM_052845.4(MMAB):c.135-4T>C
NM_052845.4(MMAB):c.150G>A (p.Ser50=) rs754357121
NM_052845.4(MMAB):c.161G>A (p.Arg54Lys)
NM_052845.4(MMAB):c.168C>G (p.Pro56=)
NM_052845.4(MMAB):c.16C>T (p.Leu6=) rs1190176115
NM_052845.4(MMAB):c.185C>T (p.Thr62Met) rs115802744
NM_052845.4(MMAB):c.197-1G>T rs763935916
NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1]) rs770077320
NM_052845.4(MMAB):c.1A>C (p.Met1Leu)
NM_052845.4(MMAB):c.206G>A (p.Ser69Asn)
NM_052845.4(MMAB):c.220G>T (p.Glu74Ter)
NM_052845.4(MMAB):c.222A>G (p.Glu74=) rs1389815526
NM_052845.4(MMAB):c.247T>C (p.Phe83Leu)
NM_052845.4(MMAB):c.248T>C (p.Phe83Ser)
NM_052845.4(MMAB):c.256G>A (p.Val86Met)
NM_052845.4(MMAB):c.258G>A (p.Val86=)
NM_052845.4(MMAB):c.288T>C (p.Ile96=) rs62000414
NM_052845.4(MMAB):c.290+1G>A
NM_052845.4(MMAB):c.291-1G>A rs199971687
NM_052845.4(MMAB):c.291-3dup
NM_052845.4(MMAB):c.297T>C (p.Ala99=)
NM_052845.4(MMAB):c.2T>G (p.Met1Arg)
NM_052845.4(MMAB):c.30T>C (p.Leu10=)
NM_052845.4(MMAB):c.316A>G (p.Lys106Glu) rs765917146
NM_052845.4(MMAB):c.333C>T (p.Ala111=) rs769385276
NM_052845.4(MMAB):c.339G>C (p.Glu113Asp)
NM_052845.4(MMAB):c.348+10_348+13del
NM_052845.4(MMAB):c.348+7A>G
NM_052845.4(MMAB):c.348+9C>T
NM_052845.4(MMAB):c.349-10C>T rs896742047
NM_052845.4(MMAB):c.349-17T>C rs72650187
NM_052845.4(MMAB):c.349-4C>G
NM_052845.4(MMAB):c.349-8C>G
NM_052845.4(MMAB):c.349-8C>T
NM_052845.4(MMAB):c.349-8dup rs759049347
NM_052845.4(MMAB):c.349-9G>A
NM_052845.4(MMAB):c.360A>G (p.Thr120=)
NM_052845.4(MMAB):c.369C>T (p.Asp123=)
NM_052845.4(MMAB):c.370G>A (p.Val124Ile)
NM_052845.4(MMAB):c.372C>T (p.Val124=)
NM_052845.4(MMAB):c.373G>A (p.Gly125Ser) rs193015172
NM_052845.4(MMAB):c.378G>A (p.Ser126=)
NM_052845.4(MMAB):c.387G>A (p.Ala129=) rs549807022
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg) rs147457956
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.408G>A (p.Arg136=)
NM_052845.4(MMAB):c.418T>C (p.Leu140=) rs768054177
NM_052845.4(MMAB):c.41G>A (p.Ser14Asn)
NM_052845.4(MMAB):c.422-5_422-3del
NM_052845.4(MMAB):c.422-6C>T rs759110803
NM_052845.4(MMAB):c.424T>C (p.Tyr142His) rs886198506
NM_052845.4(MMAB):c.432G>C (p.Thr144=) rs200127370
NM_052845.4(MMAB):c.441G>C (p.Ala147=)
NM_052845.4(MMAB):c.444G>A (p.Gly148=) rs117269384
NM_052845.4(MMAB):c.44G>A (p.Arg15His)
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter) rs557884699
NM_052845.4(MMAB):c.457C>T (p.Leu153=)
NM_052845.4(MMAB):c.468G>A (p.Trp156Ter)
NM_052845.4(MMAB):c.471C>T (p.Ile157=) rs369581051
NM_052845.4(MMAB):c.516G>T (p.Leu172=) rs914000089
NM_052845.4(MMAB):c.519+10G>A rs771725706
NM_052845.4(MMAB):c.519+1G>A rs1592998207
NM_052845.4(MMAB):c.522G>A (p.Ser174=) rs545625368
NM_052845.4(MMAB):c.525A>G (p.Gly175=)
NM_052845.4(MMAB):c.52C>T (p.Leu18=)
NM_052845.4(MMAB):c.540G>A (p.Ser180=) rs754311573
NM_052845.4(MMAB):c.541G>A (p.Ala181Thr) rs1439180009
NM_052845.4(MMAB):c.543G>A (p.Ala181=)
NM_052845.4(MMAB):c.554G>A (p.Cys185Tyr)
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln) rs773059864
NM_052845.4(MMAB):c.561C>G (p.Ala187=) rs370773720
NM_052845.4(MMAB):c.561C>T (p.Ala187=) rs370773720
NM_052845.4(MMAB):c.563_577del (p.Val188_Ala192del)
NM_052845.4(MMAB):c.569G>A (p.Arg190His) rs756414548
NM_052845.4(MMAB):c.56G>A (p.Arg19His) rs10774775
NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln) rs36013132
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln) rs746219370
NM_052845.4(MMAB):c.576C>T (p.Ala192=)
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys) rs749758687
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.581_582del (p.Arg194fs) rs1592997663
NM_052845.4(MMAB):c.583C>T (p.Arg195Cys) rs199853576
NM_052845.4(MMAB):c.585-4C>G
NM_052845.4(MMAB):c.589G>T (p.Val197Leu)
NM_052845.4(MMAB):c.60G>T (p.Gly20=)
NM_052845.4(MMAB):c.615C>T (p.Thr205=) rs760629956
NM_052845.4(MMAB):c.618T>C (p.Asp206=)
NM_052845.4(MMAB):c.620C>T (p.Ala207Val) rs61739388
NM_052845.4(MMAB):c.624C>T (p.Asn208=) rs146687452
NM_052845.4(MMAB):c.625G>A (p.Val209Met) rs200903284
NM_052845.4(MMAB):c.643_644insTT (p.Arg215fs)
NM_052845.4(MMAB):c.644+1G>A rs1592996077
NM_052845.4(MMAB):c.644+7G>A rs147637814
NM_052845.4(MMAB):c.644+8C>T
NM_052845.4(MMAB):c.644+9G>A
NM_052845.4(MMAB):c.645-6C>T
NM_052845.4(MMAB):c.645-8C>G
NM_052845.4(MMAB):c.660_661del (p.Phe221fs) rs1383825118
NM_052845.4(MMAB):c.665C>T (p.Thr222Met)
NM_052845.4(MMAB):c.666G>A (p.Thr222=) rs369296142
NM_052845.4(MMAB):c.666G>T (p.Thr222=)
NM_052845.4(MMAB):c.678T>C (p.Tyr226=) rs111678627
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) rs369296618
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593
NM_052845.4(MMAB):c.732G>A (p.Ser244=) rs186864802
NM_052845.4(MMAB):c.732G>C (p.Ser244=)
NM_052845.4(MMAB):c.735C>G (p.Ala245=)
NM_052845.4(MMAB):c.735C>T (p.Ala245=)
NM_052845.4(MMAB):c.84G>A (p.Leu28=)
NM_052845.4(MMAB):c.91C>T (p.Arg31Cys)
NM_052845.4(MMAB):c.99G>A (p.Gln33=) rs749127574

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