ClinVar Miner

List of variants studied for Moyamoya syndrome by Equipe Genetique des Anomalies du Developpement,Université de Bourgogne

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NC_000007.14:g.140777014C>G
NM_002834.4(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_033629.6(TREX1):c.397del (p.Leu133fs) rs78762691

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