ClinVar Miner

List of variants in gene CDKN1C reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP
CDKN1C, 1-BP DEL/2-BP INS, 1086T-AG
NC_000011.9:g.(?_2905209)_(2906985_?)del
NM_000076.2(CDKN1C):c.*5+2T>C rs587777866
NM_000076.2(CDKN1C):c.139C>T (p.Gln47Ter) rs137852766
NM_000076.2(CDKN1C):c.189_190insTTCCAGCTGG (p.Asp64fs) rs1554938197
NM_000076.2(CDKN1C):c.196del (p.Gln66fs) rs1554938194
NM_000076.2(CDKN1C):c.310_311delinsG (p.Leu104fs) rs387906399
NM_000076.2(CDKN1C):c.384_391del (p.Leu129fs) rs1554938087
NM_000076.2(CDKN1C):c.387del (p.Glu130fs)
NM_000076.2(CDKN1C):c.629_630insGCTCCGGCCCC (p.Ala211fs) rs786205241
NM_000076.2(CDKN1C):c.631delinsAA (p.Ala211fs) rs786205239
NM_000076.2(CDKN1C):c.635del (p.Pro212fs) rs786205237
NM_000076.2(CDKN1C):c.647del (p.Pro216fs) rs1564929584
NM_000076.2(CDKN1C):c.673G>T (p.Glu225Ter) rs1564929520
NM_000076.2(CDKN1C):c.694C>T (p.Gln232Ter) rs797045445
NM_000076.2(CDKN1C):c.706G>T (p.Glu236Ter) rs1564929426
NM_000076.2(CDKN1C):c.740C>A (p.Ser247Ter) rs104894200
NM_000076.2(CDKN1C):c.815T>G (p.Ile272Ser) rs515726203
NM_000076.2(CDKN1C):c.820G>A (p.Asp274Asn) rs387907225
NM_000076.2(CDKN1C):c.826T>G (p.Phe276Val) rs387907223
NM_000076.2(CDKN1C):c.827T>C (p.Phe276Ser) rs387907224
NM_000076.2(CDKN1C):c.832A>G (p.Lys278Glu) rs387907226
NM_000076.2(CDKN1C):c.836G>C (p.Arg279Pro) rs318240750
NM_000076.2(CDKN1C):c.836G>T (p.Arg279Leu) rs318240750
NM_000076.2(CDKN1C):c.842G>T (p.Arg281Ile) rs886037912
NM_000076.2(CDKN1C):c.845C>A (p.Ser282Ter) rs267606716
NM_000076.2(CDKN1C):c.845C>G (p.Ser282Ter) rs267606716
NM_001362475.2(CDKN1C):c.255+111dup rs786205236
NM_001362475.2(CDKN1C):c.255+161del rs786205234
NM_001362475.2(CDKN1C):c.255+323_255+347dup rs1554937847
NM_001362475.2(CDKN1C):c.255+344CCCCGG[4] rs772704243
NM_001362475.2(CDKN1C):c.255+353_255+356delinsGGG rs786205240
NM_001362475.2(CDKN1C):c.255+45dup rs786205235

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