ClinVar Miner

List of variants studied for RASopathy by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000267.3(NF1):c.1722-2A>G rs763983337
NM_000267.3(NF1):c.3596C>G (p.Thr1199Arg) rs1555615047
NM_002834.4(PTPN11):c.1174G>A (p.Ala392Thr) rs774356443
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_005188.3(CBL):c.1096-4_1096-1del rs397517077
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly) rs267607048

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