ClinVar Miner

List of variants reported as pathogenic for Moyamoya syndrome by Baylor Genetics

Included ClinVar conditions (48):
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Total variants: 54
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HGVS dbSNP
GRCh37/hg19 Xq28(chrX:154305031-154307464)
NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) rs80356821
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000518.4(HBB):c.27dupG (p.Ser10Valfs*14) rs35699606
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.5(HBB):c.*110T>C rs33978907
NM_000518.5(HBB):c.-106G>C rs63750681
NM_000518.5(HBB):c.-137C>T rs33941377
NM_000518.5(HBB):c.-78A>C rs33931746
NM_000518.5(HBB):c.-78A>G rs33931746
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407
NM_000518.5(HBB):c.130G>T (p.Glu44Ter) rs33922842
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102
NM_000518.5(HBB):c.2T>G (p.Met1Arg) rs33941849
NM_000518.5(HBB):c.315+1G>A rs33945777
NM_000518.5(HBB):c.316-106C>G rs34690599
NM_000518.5(HBB):c.316-197C>T rs34451549
NM_000518.5(HBB):c.316-2A>G rs33914668
NM_000518.5(HBB):c.316-7C>A rs34483965
NM_000518.5(HBB):c.364G>T (p.Glu122Ter) rs33946267
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) rs63750783
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.92+1G>A rs33971440
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.92+5G>C rs33915217
NM_000518.5(HBB):c.92+6T>C rs35724775
NM_000518.5(HBB):c.93-21G>A rs35004220
NM_002834.4(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541
NM_002834.4(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.4(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002880.3(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_006031.6(PCNT):c.1032+1G>A rs1569178877
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.270G>T (p.Met90Ile) rs483352822
NM_033360.4(KRAS):c.*12A>T rs104894360
NM_033360.4(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_033629.6(TREX1):c.366_368dup (p.Ala123dup) rs77371662

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