ClinVar Miner

List of variants reported as likely pathogenic for Myelodysplastic syndrome

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Total variants: 31
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HGVS dbSNP
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_000546.5(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_001025203.1(U2AF1):c.101C>A (p.Ser34Tyr) rs371769427
NM_001276761.1(TP53):c.625C>G (p.Arg209Gly) rs121912651
NM_001282386.1(IDH1):c.395G>A (p.Arg132His) rs121913500
NM_001282387.1(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_001282387.1(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_001282387.1(IDH1):c.394C>T (p.Arg132Cys) rs121913499
NM_002168.3(IDH2):c.418C>T (p.Arg140Trp) rs267606870
NM_002168.3(IDH2):c.419G>A (p.Arg140Gln) rs121913502
NM_002168.3(IDH2):c.419G>T (p.Arg140Leu) rs121913502
NM_002524.3(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.3(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002524.3(NRAS):c.34G>T (p.Gly12Cys) rs121913250
NM_002524.3(NRAS):c.35G>A (p.Gly12Asp) rs121913237
NM_002524.3(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.3(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.4(NRAS):c.35G>C (p.Gly12Ala) rs121913237
NM_002524.4(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.4(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_005343.2(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.2(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005896.3(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_006758.2(U2AF1):c.101C>T (p.Ser34Phe) rs371769427
NM_006842.2(SF3B2):c.2099A>G (p.Glu700Gly) rs1057519960
NM_153759.3(DNMT3A):c.2077C>T (p.Arg693Cys) rs377577594
NM_175629.2(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_175629.2(DNMT3A):c.2645G>C (p.Arg882Pro) rs147001633
NM_176795.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229

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