ClinVar Miner

List of variants reported as uncertain significance for Moyamoya syndrome by Phosphorus, Inc.

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_002834.4(PTPN11):c.1579C>T (p.Arg527Cys) rs191525506
NM_002834.4(PTPN11):c.1599+4C>A rs142606486
NM_002834.4(PTPN11):c.473G>C (p.Gly158Ala) rs1555267825
NM_005633.3(SOS1):c.1574T>C (p.Ile525Thr) rs146722878
NM_005633.3(SOS1):c.3418T>A (p.Leu1140Ile) rs375550588
NM_006939.4(SOS2):c.2161+10A>G rs201629454

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