ClinVar Miner

List of variants reported as uncertain significance for RASopathy by Blueprint Genetics,

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000364.4(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
NM_002834.4(PTPN11):c.893A>G (p.Asn298Ser) rs572274623
NM_004409.5(DMPK):c.161-189T>C rs752437441
NM_005188.3(CBL):c.2519G>C (p.Cys840Ser) rs376536789

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