ClinVar Miner

List of variants reported as uncertain significance for IMAGe syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
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.736G>T (p.Ala246Ser) rs754283907 0.00014
NM_001122630.2(CDKN1C):c.-10-5C>T rs374634184 0.00013
NM_001122630.2(CDKN1C):c.853C>T (p.Pro285Ser) rs531059713 0.00007
NM_001122630.2(CDKN1C):c.-10-7T>C rs201715947 0.00004
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.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.527C>T (p.Ala176Val) rs1443539133 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.-10-13C>T rs201368350 0.00001
NM_001122630.2(CDKN1C):c.-8C>T rs1300493378 0.00001
NM_001122630.2(CDKN1C):c.331G>A (p.Ala111Thr) rs551863674 0.00001
NM_001122630.2(CDKN1C):c.377C>T (p.Pro126Leu) rs1445830484 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.676C>T (p.Pro226Ser) rs1240280374 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.746A>G (p.Asn249Ser) rs1282204263 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+1G>A
NM_001122630.2(CDKN1C):c.*5+20G>T rs760540648
NM_001122630.2(CDKN1C):c.174G>A (p.Met58Ile) rs2133785866
NM_001122630.2(CDKN1C):c.190G>A (p.Gly64Arg) rs1224283171
NM_001122630.2(CDKN1C):c.204G>C (p.Trp68Cys) rs2133785693
NM_001122630.2(CDKN1C):c.254A>G (p.Gln85Arg) rs1220704341
NM_001122630.2(CDKN1C):c.317C>T (p.Pro106Leu) rs945890937
NM_001122630.2(CDKN1C):c.329C>G (p.Pro110Arg) rs1590150723
NM_001122630.2(CDKN1C):c.335C>T (p.Ala112Val)
NM_001122630.2(CDKN1C):c.371A>G (p.Gln124Arg)
NM_001122630.2(CDKN1C):c.381_386dup (p.Pro131_Ala132insValPro)
NM_001122630.2(CDKN1C):c.40G>A (p.Val14Met) rs758244300
NM_001122630.2(CDKN1C):c.410C>G (p.Pro137Arg)
NM_001122630.2(CDKN1C):c.425_442dup (p.Val142_Pro147dup) rs1443296311
NM_001122630.2(CDKN1C):c.428T>C (p.Leu143Pro) rs1848952868
NM_001122630.2(CDKN1C):c.431C>T (p.Ala144Val) rs1848952463
NM_001122630.2(CDKN1C):c.438_449del (p.144_145AP[3]) rs1301544231
NM_001122630.2(CDKN1C):c.43C>G (p.Arg15Gly) rs765255367
NM_001122630.2(CDKN1C):c.440C>A (p.Pro147Gln)
NM_001122630.2(CDKN1C):c.442G>A (p.Ala148Thr) rs1237188823
NM_001122630.2(CDKN1C):c.443_460del (p.144AP[2]) rs1469652745
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[5] (p.152APVA[5]) rs565544512
NM_001122630.2(CDKN1C):c.479_500delinsTCGCGGTCCTGGCCCC (p.Ala160_Leu167delinsValAlaValLeuAlaPro)
NM_001122630.2(CDKN1C):c.491T>C (p.Val164Ala)
NM_001122630.2(CDKN1C):c.496G>C (p.Val166Leu)
NM_001122630.2(CDKN1C):c.510_533dup (p.168_169AP[12]) rs1486933065
NM_001122630.2(CDKN1C):c.522_524delinsCCT (p.Pro175Leu)
NM_001122630.2(CDKN1C):c.531G>A (p.Pro177=)
NM_001122630.2(CDKN1C):c.546_579delinsCCCA (p.Val184_Pro193del) rs2133783226
NM_001122630.2(CDKN1C):c.553_554delinsTT (p.Ala185Leu) rs1590149719
NM_001122630.2(CDKN1C):c.553_570dup (p.Ala185_Ala190dup) rs2133783326
NM_001122630.2(CDKN1C):c.555_566del (p.186AP[8]) rs1060503855
NM_001122630.2(CDKN1C):c.567_584dup (p.186AP[13]) rs878853636
NM_001122630.2(CDKN1C):c.567_608del (p.186AP[3]) rs2133782940
NM_001122630.2(CDKN1C):c.573GGCCCC[8] (p.186AP[14]) rs759134767
NM_001122630.2(CDKN1C):c.589C>T (p.Pro197Ser)
NM_001122630.2(CDKN1C):c.592G>A (p.Ala198Thr) rs750581456
NM_001122630.2(CDKN1C):c.597_602dup (p.186_187AP[11]) rs786205238
NM_001122630.2(CDKN1C):c.597_608dup (p.186_187AP[12]) rs1380480846
NM_001122630.2(CDKN1C):c.620C>T (p.Ala207Val) rs1564929547
NM_001122630.2(CDKN1C):c.625C>A (p.Pro209Thr) rs1329147434
NM_001122630.2(CDKN1C):c.644A>G (p.Gln215Arg)
NM_001122630.2(CDKN1C):c.658G>A (p.Gly220Arg) rs1564929482
NM_001122630.2(CDKN1C):c.668G>A (p.Gly223Asp) rs1203065343
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.737C>A (p.Ala246Asp)
NM_001122630.2(CDKN1C):c.746A>T (p.Asn249Ile)
NM_001122630.2(CDKN1C):c.74C>A (p.Pro25Gln) rs1564930749
NM_001122630.2(CDKN1C):c.775C>A (p.Pro259Thr) rs1416211722
NM_001122630.2(CDKN1C):c.788-3C>T rs2133780392
NM_001122630.2(CDKN1C):c.820G>A (p.Glu274Lys)
NM_001122630.2(CDKN1C):c.841C>G (p.Pro281Ala) rs1564928669
NM_001122630.2(CDKN1C):c.84C>G (p.His28Gln)
NM_001122630.2(CDKN1C):c.885G>A (p.Ser295=) rs1060503861
NM_001122630.2(CDKN1C):c.98G>T (p.Arg33Leu) rs1477382841

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