ClinVar Miner

List of variants in gene CDKN1C studied for IMAGe syndrome

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_001122630.2(CDKN1C):c.567A>G (p.Pro189=) rs529326848 0.03671
NM_001122630.2(CDKN1C):c.-11+61G>A rs188494894 0.00603
NM_001122630.2(CDKN1C):c.-132G>A rs147317732 0.00329
NM_001122630.2(CDKN1C):c.99C>T (p.Arg33=) rs149717696 0.00208
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.213G>A (p.Val71=) rs141005361 0.00026
NM_001122630.2(CDKN1C):c.319C>G (p.Pro107Ala) rs772684721 0.00023
NM_001122630.2(CDKN1C):c.551T>C (p.Val184Ala) rs1261515352 0.00016
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.316C>T (p.Pro106Ser) rs570636789 0.00004
NM_001122630.2(CDKN1C):c.395C>T (p.Ala132Val) rs896475967 0.00004
NM_001122630.2(CDKN1C):c.105G>A (p.Leu35=) rs762337324 0.00003
NM_001122630.2(CDKN1C):c.225G>C (p.Ser75=) rs1015104953 0.00003
NM_001122630.2(CDKN1C):c.317C>G (p.Pro106Arg) rs945890937 0.00003
NM_001122630.2(CDKN1C):c.815C>T (p.Ala272Val) rs776541692 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.51C>T (p.Ser17=) rs1216953646 0.00002
NM_001122630.2(CDKN1C):c.542C>G (p.Pro181Arg) rs1377428359 0.00002
NM_001122630.2(CDKN1C):c.553G>C (p.Ala185Pro) rs1281835164 0.00002
NM_001122630.2(CDKN1C):c.611C>A (p.Ala204Asp) rs1060500176 0.00002
NM_001122630.2(CDKN1C):c.-8C>T rs1300493378 0.00001
NM_001122630.2(CDKN1C):c.291C>T (p.Pro97=) rs534471786 0.00001
NM_001122630.2(CDKN1C):c.354C>T (p.Leu118=) rs1426804435 0.00001
NM_001122630.2(CDKN1C):c.453G>A (p.Pro151=) rs1262607893 0.00001
NM_001122630.2(CDKN1C):c.457C>G (p.Pro153Ala) rs1323691763 0.00001
NM_001122630.2(CDKN1C):c.465G>A (p.Ala155=) rs1361624164 0.00001
NM_001122630.2(CDKN1C):c.564C>T (p.Ala188=) rs1554937891 0.00001
NM_001122630.2(CDKN1C):c.737C>G (p.Ala246Gly) rs878853642 0.00001
NM_001122630.2(CDKN1C):c.742G>T (p.Ala248Ser) rs773881541 0.00001
NM_001122630.2(CDKN1C):c.751G>A (p.Ala251Thr) rs1300586071 0.00001
NM_001122630.2(CDKN1C):c.97C>T (p.Arg33Cys) rs956525226 0.00001
NM_001122630.2(CDKN1C):c.*5+18dup rs34289096
NM_001122630.2(CDKN1C):c.*5+1G>A
NM_001122630.2(CDKN1C):c.*5+20G>T rs760540648
NM_001122630.2(CDKN1C):c.-3A>G rs1564930879
NM_001122630.2(CDKN1C):c.174G>A (p.Met58Ile) rs2133785866
NM_001122630.2(CDKN1C):c.204G>C (p.Trp68Cys) rs2133785693
NM_001122630.2(CDKN1C):c.329C>G (p.Pro110Arg) rs1590150723
NM_001122630.2(CDKN1C):c.425_442dup (p.Val142_Pro147dup) rs1443296311
NM_001122630.2(CDKN1C):c.43C>G (p.Arg15Gly) rs765255367
NM_001122630.2(CDKN1C):c.567_596dup (p.186_187AP[15]) rs1064792990
NM_001122630.2(CDKN1C):c.573GGCCCC[3] (p.186AP[9]) rs759134767
NM_001122630.2(CDKN1C):c.587_616dup (p.186_187AP[15]) rs878853638
NM_001122630.2(CDKN1C):c.592G>A (p.Ala198Thr) rs750581456
NM_001122630.2(CDKN1C):c.625C>A (p.Pro209Thr) rs1329147434
NM_001122630.2(CDKN1C):c.709G>A (p.Gly237Arg) rs1564929381
NM_001122630.2(CDKN1C):c.715C>T (p.Pro239Ser) rs2133782321
NM_001122630.2(CDKN1C):c.719C>T (p.Ala240Val) rs765542916
NM_001122630.2(CDKN1C):c.775C>A (p.Pro259Thr) rs1416211722
NM_001122630.2(CDKN1C):c.782T>G (p.Ile261Ser) rs515726203
NM_001122630.2(CDKN1C):c.787+2T>A rs1554937698
NM_001122630.2(CDKN1C):c.787G>A (p.Asp263Asn) rs387907225
NM_001122630.2(CDKN1C):c.789_793delinsGAGCTG (p.Asp263fs) rs2133780371
NM_001122630.2(CDKN1C):c.793T>G (p.Phe265Val) rs387907223
NM_001122630.2(CDKN1C):c.794T>C (p.Phe265Ser) rs387907224
NM_001122630.2(CDKN1C):c.799A>G (p.Lys267Glu) rs387907226
NM_001122630.2(CDKN1C):c.802C>A (p.Arg268Ser) rs1848883206
NM_001122630.2(CDKN1C):c.803G>C (p.Arg268Pro) rs318240750
NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu) rs318240750
NM_001122630.2(CDKN1C):c.809G>T (p.Arg270Ile) rs886037912
NM_001122630.2(CDKN1C):c.828G>C (p.Ser276=) rs373252940
NM_001122630.2(CDKN1C):c.841C>G (p.Pro281Ala) rs1564928669
NM_001122630.2(CDKN1C):c.885G>A (p.Ser295=) rs1060503861
NM_001122630.2(CDKN1C):c.98G>T (p.Arg33Leu) rs1477382841

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