ClinVar Miner

List of variants studied for Moyamoya syndrome by Center of Genomic medicine, Geneva,University Hospital of Geneva

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_002834.4(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.4(PTPN11):c.228G>T (p.Glu76Asp) rs397507514
NM_002834.4(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.4(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.4(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_005633.3(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_006031.6(PCNT):c.7804G>T (p.Glu2602Ter) rs1555999948

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