ClinVar Miner

List of variants reported as likely benign for Beckwith-Wiedemann syndrome by Sema4, Sema4

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001122630.2(CDKN1C):c.636C>T (p.Ser212=) rs540923047 0.00143
NM_001122630.2(CDKN1C):c.702G>A (p.Gly234=) rs556682082 0.00065
NM_001122630.2(CDKN1C):c.303G>C (p.Ala101=) rs931922290 0.00022
NM_001122630.2(CDKN1C):c.320C>T (p.Pro107Leu) rs771731330 0.00013
NM_001122630.2(CDKN1C):c.579G>A (p.Pro193=) rs794726872 0.00004
NM_001122630.2(CDKN1C):c.885G>C (p.Ser295=) rs1060503861 0.00003
NM_001122630.2(CDKN1C):c.*5+19_*5+20insA rs757091712
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[4] (p.152APVA[4]) rs565544512
NM_001122630.2(CDKN1C):c.504CCCGGC[1] (p.168AP[6]) rs878853629
NM_001122630.2(CDKN1C):c.567_572del (p.186_187AP[9]) rs1060503860
NM_001122630.2(CDKN1C):c.567_578del (p.186_187AP[8]) rs878853634
NM_001122630.2(CDKN1C):c.567_578dup (p.186_187AP[12]) rs878853634
NM_001122630.2(CDKN1C):c.567_590del (p.186_187AP[6]) rs878853637
NM_001122630.2(CDKN1C):c.587_616del (p.186_187AP[5]) rs878853638
NM_001122630.2(CDKN1C):c.771C>T (p.Ser257=) rs747104008

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