ClinVar Miner

List of variants reported as uncertain significance for Moyamoya syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_002834.4(PTPN11):c.1277A>C (p.His426Pro) rs727505389
NM_002834.4(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.4(PTPN11):c.556C>T (p.Arg186Trp) rs143433437
NM_005633.3(SOS1):c.1490G>A (p.Arg497Gln) rs371314838
NM_005633.3(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671
NM_005633.3(SOS1):c.3290G>C (p.Ser1097Thr) rs727505379
NM_005633.3(SOS1):c.3433G>A (p.Asp1145Asn) rs727505383

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