ClinVar Miner

List of variants reported as uncertain significance for Beckwith-Wiedemann syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000076.2(CDKN1C):c.-266G>A rs147317732
NM_000218.2(KCNQ1):c.296C>G (p.Pro99Arg) rs370435862
NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys) rs199472787
NM_001122630.2(CDKN1C):c.815C>T (p.Ala272Val) rs776541692
NM_022455.4(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824
NM_181798.1(KCNQ1):c.133G>A (p.Val45Met) rs199472694
NM_181798.1(KCNQ1):c.1480G>A (p.Gly494Ser) rs199472820
NM_181798.1(KCNQ1):c.1504G>A (p.Gly502Ser) rs775608046
NM_181798.1(KCNQ1):c.263T>G (p.Val88Gly) rs368011737
NM_181798.1(KCNQ1):c.747+5G>A rs76735093
NM_181798.1(KCNQ1):c.973C>T (p.Arg325Trp) rs140452381
NM_181798.1(KCNQ1):c.974G>A (p.Arg325Gln) rs145229963

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