ClinVar Miner

List of variants reported as uncertain significance for Moyamoya syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP
NM_002049.3(GATA1):c.94G>A (p.Val32Ile) rs782698349
NM_002755.3(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
NM_002755.3(MAP2K1):c.961C>T (p.Pro321Ser)
NM_002834.4(PTPN11):c.1048T>G (p.Ser350Ala) rs146571700
NM_002834.4(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.4(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214
NM_002880.3(RAF1):c.1814C>T (p.Ser605Phe) rs730881004
NM_002880.3(RAF1):c.601A>G (p.Ile201Val) rs757700986
NM_004333.6(BRAF):c.1166G>A (p.Arg389His) rs577372072
NM_004333.6(BRAF):c.1237G>A (p.Val413Met) rs377093637
NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys) rs1562939198
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012
NM_005633.3(SOS1):c.1098T>A (p.Asp366Glu) rs730881040
NM_005633.3(SOS1):c.1564A>C (p.Asn522His) rs761094509
NM_005633.3(SOS1):c.1720G>A (p.Val574Ile) rs727504641
NM_005633.3(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734
NM_005633.3(SOS1):c.487A>G (p.Lys163Glu) rs886042206
NM_006031.6(PCNT):c.321G>T (p.Lys107Asn) rs138834119
NM_006031.6(PCNT):c.3220C>T (p.Arg1074Trp) rs200174202
NM_006031.6(PCNT):c.3443T>C (p.Val1148Ala) rs762148129
NM_006031.6(PCNT):c.3581C>T (p.Ala1194Val) rs138254119
NM_006031.6(PCNT):c.4078C>T (p.Arg1360Cys) rs202221024
NM_006031.6(PCNT):c.4109G>A (p.Arg1370Gln) rs145055342
NM_006031.6(PCNT):c.427C>T (p.Arg143Cys) rs201176638
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu) rs180775012
NM_006031.6(PCNT):c.5855C>T (p.Ala1952Val) rs370664761
NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu) rs758977418
NM_006031.6(PCNT):c.6195T>G (p.Asp2065Glu) rs148389745
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr) rs138962786
NM_006031.6(PCNT):c.7136C>T (p.Pro2379Leu) rs151230453
NM_006031.6(PCNT):c.7198C>T (p.Arg2400Cys) rs751297741
NM_006031.6(PCNT):c.7304A>G (p.His2435Arg) rs373432697
NM_006031.6(PCNT):c.7309G>C (p.Gly2437Arg) rs148384323
NM_006031.6(PCNT):c.8873G>A (p.Arg2958His) rs574728262
NM_006031.6(PCNT):c.8959C>T (p.Arg2987Trp) rs587784322
NM_006397.2(RNASEH2A):c.874G>A (p.Gly292Ser)
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006939.4(SOS2):c.1861T>G (p.Phe621Val) rs1555370029
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys) rs772746106
NM_015474.3(SAMHD1):c.1445G>A (p.Ser482Asn)
NM_022168.4(IFIH1):c.1166G>A (p.Gly389Glu) rs765985079
NM_024570.3(RNASEH2B):c.314A>C (p.Asp105Ala)
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767
NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) rs769885715

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