ClinVar Miner

List of variants reported as pathogenic for RASopathy by Equipe Genetique des Anomalies du Developpement,Université de Bourgogne

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NC_000007.14:g.140777014C>G
NM_002834.4(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546
NM_002834.4(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_004333.6(BRAF):c.1497A>T (p.Lys499Asn)
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly) rs267607048

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