ClinVar Miner

List of variants in gene MUTYH reported as likely pathogenic by Color Health, Inc

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Gene type:
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Total variants: 29
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HGVS dbSNP
NM_001048171.1(MUTYH):c.1435G>T (p.Val479Phe) rs587782228
NM_001048174.2(MUTYH):c.1240-2A>C
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255
NM_001048174.2(MUTYH):c.378+1G>T
NM_001048174.2(MUTYH):c.421-2A>C rs786203161
NM_001048174.2(MUTYH):c.460C>G (p.Arg154Gly)
NM_001048174.2(MUTYH):c.493-5A>G rs758377868
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013
NM_001048174.2(MUTYH):c.914-1G>T
NM_001128425.1(MUTYH):c.1163T>C (p.Leu388Pro) rs1060501335
NM_001128425.1(MUTYH):c.1186+1G>T rs587781337
NM_001128425.1(MUTYH):c.1476_1476+6del rs864621967
NM_001128425.1(MUTYH):c.1501C>T (p.Gln501Ter) rs932830392
NM_001128425.1(MUTYH):c.1518+1G>T rs876659420
NM_001128425.1(MUTYH):c.348+1G>T rs1553130042
NM_001128425.1(MUTYH):c.37-2A>G rs1383826978
NM_001128425.1(MUTYH):c.389-1G>A rs372267274
NM_001128425.1(MUTYH):c.391T>A (p.Trp131Arg) rs730881832
NM_001128425.1(MUTYH):c.463-1G>A rs1057520660
NM_001128425.1(MUTYH):c.504+19_504+31del rs781222233
NM_001128425.1(MUTYH):c.548G>A (p.Gly183Asp) rs587781864
NM_001128425.1(MUTYH):c.577-2A>G rs1553128663
NM_001128425.1(MUTYH):c.690G>A (p.Gln230=) rs199989617
NM_001128425.1(MUTYH):c.713A>G (p.Asn238Ser) rs1057517765
NM_001128425.1(MUTYH):c.722G>A (p.Arg241Gln) rs1060501346
NM_001128425.1(MUTYH):c.820C>T (p.Arg274Trp) rs769237459
NM_001128425.1(MUTYH):c.847A>G (p.Met283Val) rs876659676
NM_001128425.1(MUTYH):c.857G>A (p.Gly286Glu) rs730881833
NM_001128425.1(MUTYH):c.918C>G (p.Cys306Trp) rs730881834

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