ClinVar Miner

List of variants in gene CDKN1C reported as benign for Beckwith-Wiedemann syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_000076.2(CDKN1C):c.-84G>A rs188494894
NM_000076.2(CDKN1C):c.549_554del rs878853629
NM_000076.2(CDKN1C):c.555T>C (p.Ala185=) rs191294997
NM_000076.2(CDKN1C):c.567_572del rs878853632
NM_000076.2(CDKN1C):c.618_629del rs759134767
NM_001122630.2(CDKN1C):c.291C>T (p.Pro97=) rs534471786
NM_001122630.2(CDKN1C):c.39A>G (p.Leu13=) rs3852522
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=) rs533485167
NM_001122630.2(CDKN1C):c.567A>G (p.Pro189=) rs529326848
NM_001122630.2(CDKN1C):c.567_572del (p.186_187AP[9]) rs1060503860
NM_001122630.2(CDKN1C):c.567_578dup (p.186_187AP[12]) rs878853634
NM_001122630.2(CDKN1C):c.567_584del (p.186_187AP[7]) rs878853636
NM_001122630.2(CDKN1C):c.567_590del (p.186_187AP[6]) rs878853637
NM_001122630.2(CDKN1C):c.593_616del (p.186_187AP[6]) rs778468310
NM_001122630.2(CDKN1C):c.636C>T (p.Ser212=) rs540923047
NM_001122630.2(CDKN1C):c.675G>A (p.Glu225=) rs3741341
NM_001122630.2(CDKN1C):c.702G>A (p.Gly234=) rs556682082
NM_001122630.2(CDKN1C):c.99C>T (p.Arg33=) rs149717696
NM_001362475.2(CDKN1C):c.255+200CTCCGGTCGCGG[2] rs565544512
NM_001362475.2(CDKN1C):c.255+312_255+323del rs878853634
NM_001362475.2(CDKN1C):c.255+318GGCCCC[5] rs759134767

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