ClinVar Miner

List of variants reported as likely pathogenic for Moyamoya syndrome by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (50):
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ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_002834.4(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.4(PTPN11):c.182A>C (p.Asp61Ala) rs121918461
NM_002834.4(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.4(PTPN11):c.214G>C (p.Ala72Pro) rs121918453
NM_002834.4(PTPN11):c.235C>A (p.Gln79Lys) rs397516803
NM_002834.4(PTPN11):c.774G>T (p.Glu258Asp) rs397516809
NM_002834.4(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002834.4(PTPN11):c.802G>T (p.Gly268Cys) rs397507527
NM_002834.4(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002880.3(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.3(RAF1):c.1423T>C (p.Phe475Leu) rs730881003
NM_002880.3(RAF1):c.1457A>G (p.Asp486Gly) rs397516815
NM_002880.3(RAF1):c.285C>G (p.Cys95Trp) rs727503384
NM_002880.3(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_002880.3(RAF1):c.768G>C (p.Arg256Ser) rs397516826
NM_002880.3(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_002880.3(RAF1):c.775T>C (p.Ser259Pro) rs3730271
NM_002880.3(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_004333.4(BRAF):c.1409C>G (p.Thr470Arg) rs397516891
NM_004333.4(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_004985.4(KRAS):c.454G>T (p.Val152Phe) rs397517041
NM_004985.4(KRAS):c.458A>G (p.Asp153Gly) rs104894360
NM_004985.4(KRAS):c.466T>G (p.Phe156Val) rs397517042
NM_005343.3(HRAS):c.175_176delGCinsCT (p.Ala59Leu) rs727504747
NM_005343.3(HRAS):c.35_36delGCinsAA (p.Gly12Glu) rs727503094
NM_005343.3(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005633.3(SOS1):c.1132A>G (p.Thr378Ala) rs397517146
NM_005633.3(SOS1):c.1867T>G (p.Phe623Val) rs727505093
NM_005633.3(SOS1):c.2671G>A (p.Glu891Lys) rs1553353452
NM_005633.3(SOS1):c.3022T>C (p.Tyr1008His) rs397517163
NM_005633.3(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.3(SOS1):c.335C>G (p.Pro112Arg) rs397517166
NM_005633.3(SOS1):c.512T>C (p.Val171Ala) rs397517174
NM_006397.2(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971
NM_006912.5(RIT1):c.229G>C (p.Ala77Pro) rs869025191
NM_006912.5(RIT1):c.251C>T (p.Ala84Val) rs869025196
NM_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_033360.3(KRAS):c.13A>G (p.Lys5Glu) rs193929331

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