ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome and Noonan-related syndrome by Blueprint Genetics

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser) rs572274623 0.00004
NM_004409.5(DMPK):c.161-189T>C rs752437441 0.00001
NM_005188.4(CBL):c.2519G>C (p.Cys840Ser) rs376536789

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