ClinVar Miner

List of variants in gene CDKN1C studied for Inborn genetic diseases

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001122630.2(CDKN1C):c.522T>C (p.Ala174=) rs191294997 0.26852
NM_001122630.2(CDKN1C):c.736G>T (p.Ala246Ser) rs754283907 0.00014
NM_001122630.2(CDKN1C):c.320C>T (p.Pro107Leu) rs771731330 0.00013
NM_001122630.2(CDKN1C):c.853C>T (p.Pro285Ser) rs531059713 0.00007
NM_001122630.2(CDKN1C):c.500T>C (p.Leu167Pro) rs1060500177 0.00006
NM_001122630.2(CDKN1C):c.-10-7T>C rs201715947 0.00004
NM_001122630.2(CDKN1C):c.494C>T (p.Ala165Val) rs1383784539 0.00003
NM_001122630.2(CDKN1C):c.497T>C (p.Val166Ala) rs1288020047 0.00003
NM_001122630.2(CDKN1C):c.17C>T (p.Ala6Val) rs1477196859 0.00002
NM_001122630.2(CDKN1C):c.193C>T (p.Arg65Cys) rs750526402 0.00002
NM_001122630.2(CDKN1C):c.542C>G (p.Pro181Arg) rs1377428359 0.00002
NM_001122630.2(CDKN1C):c.577C>G (p.Pro193Ala) rs1345683292 0.00002
NM_001122630.2(CDKN1C):c.712C>T (p.Arg238Cys) rs878853641 0.00002
NM_001122630.2(CDKN1C):c.742G>T (p.Ala248Ser) rs773881541 0.00001
NM_001122630.2(CDKN1C):c.746A>G (p.Asn249Ser) rs1282204263 0.00001
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[2] (p.152APVA[2]) rs565544512
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[4] (p.152APVA[4]) rs565544512
NM_001122630.2(CDKN1C):c.472G>A (p.Val158Ile) rs1848947864
NM_001122630.2(CDKN1C):c.476C>A (p.Ala159Glu)
NM_001122630.2(CDKN1C):c.493G>C (p.Ala165Pro)
NM_001122630.2(CDKN1C):c.522TCCGGC[2] (p.168AP[7]) rs878853632
NM_001122630.2(CDKN1C):c.525_548del (p.168_169AP[4]) rs878853630
NM_001122630.2(CDKN1C):c.551T>G (p.Val184Gly)
NM_001122630.2(CDKN1C):c.567_578del (p.186_187AP[8]) rs878853634
NM_001122630.2(CDKN1C):c.62G>A (p.Ser21Asn)
NM_001122630.2(CDKN1C):c.643C>G (p.Gln215Glu) rs483352987
NM_001122630.2(CDKN1C):c.719C>T (p.Ala240Val) rs765542916
NM_001122630.2(CDKN1C):c.787G>A (p.Asp263Asn) rs387907225
NM_001122630.2(CDKN1C):c.788-1G>A rs1848884556
NM_001122630.2(CDKN1C):c.86A>G (p.Glu29Gly)

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