ClinVar Miner

List of variants studied for RASopathy by Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000267.3(NF1):c.5024del (p.Leu1675fs) rs1555533368
NM_002834.4(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.4(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_004333.6(BRAF):c.1914T>G (p.Asp638Glu) rs180177042
NM_005188.3(CBL):c.1100A>C (p.Gln367Pro) rs267606704

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