ClinVar Miner

List of variants in gene CDKN2A reported as likely pathogenic for Hereditary cancer-predisposing syndrome

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly) rs372670098 0.00003
NM_000077.5(CDKN2A):c.104G>C (p.Gly35Ala) rs746834149 0.00001
NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp) rs749714198 0.00001
NM_000077.5(CDKN2A):c.458-105A>G rs1060501266 0.00001
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000077.5(CDKN2A):c.113C>G (p.Pro38Arg)
NM_000077.5(CDKN2A):c.142C>A (p.Pro48Thr) rs786204195
NM_000077.5(CDKN2A):c.143C>G (p.Pro48Arg) rs763804037
NM_000077.5(CDKN2A):c.143C>T (p.Pro48Leu)
NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser) rs199907548
NM_000077.5(CDKN2A):c.149A>C (p.Gln50Pro) rs587778189
NM_000077.5(CDKN2A):c.150+2T>G
NM_000077.5(CDKN2A):c.151-1G>T rs730881677
NM_000077.5(CDKN2A):c.151-2A>G rs1554654224
NM_000077.5(CDKN2A):c.154ATG[2] (p.Met54del) rs2131096613
NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile) rs104894095
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly) rs104894099
NM_000077.5(CDKN2A):c.179C>A (p.Ala60Glu) rs36204594
NM_000077.5(CDKN2A):c.183GCT[5] (p.Leu65dup) rs2131096063
NM_000077.5(CDKN2A):c.194T>C (p.Leu65Pro) rs1587332314
NM_000077.5(CDKN2A):c.199G>C (p.Gly67Arg) rs758389471
NM_000077.5(CDKN2A):c.202G>C (p.Ala68Pro) rs1819719137
NM_000077.5(CDKN2A):c.202_203delinsTT (p.Ala68Leu) rs876658534
NM_000077.5(CDKN2A):c.203C>T (p.Ala68Val) rs1060501260
NM_000077.5(CDKN2A):c.212A>G (p.Asn71Ser) rs559848002
NM_000077.5(CDKN2A):c.213C>A (p.Asn71Lys)
NM_000077.5(CDKN2A):c.250G>A (p.Asp84Asn) rs11552822
NM_000077.5(CDKN2A):c.251A>C (p.Asp84Ala) rs587782792
NM_000077.5(CDKN2A):c.260G>C (p.Arg87Pro) rs878853647
NM_000077.5(CDKN2A):c.266G>A (p.Gly89Asp) rs137854599
NM_000077.5(CDKN2A):c.296G>C (p.Arg99Pro) rs754806883
NM_000077.5(CDKN2A):c.322G>A (p.Asp108Asn) rs121913381
NM_000077.5(CDKN2A):c.322G>T (p.Asp108Tyr) rs121913381
NM_000077.5(CDKN2A):c.334C>G (p.Arg112Gly) rs876660436
NM_000077.5(CDKN2A):c.340_355del (p.Pro114fs) rs1554653956
NM_000077.5(CDKN2A):c.341C>G (p.Pro114Arg)
NM_000077.5(CDKN2A):c.353C>T (p.Ala118Val) rs1060501270
NM_000077.5(CDKN2A):c.379G>C (p.Ala127Pro) rs6413464
NM_000077.5(CDKN2A):c.457+1_457+10del rs1587330284
NM_000077.5(CDKN2A):c.47T>C (p.Leu16Pro) rs864622263
NM_000077.5(CDKN2A):c.52_57dup (p.Thr18_Ala19dup) rs1563892769
NM_000077.5(CDKN2A):c.58G>C (p.Ala20Pro) rs760065045
NM_000077.5(CDKN2A):c.67G>A (p.Gly23Ser) rs1131691186
NM_000077.5(CDKN2A):c.67G>C (p.Gly23Arg) rs1131691186
NM_000077.5(CDKN2A):c.67G>T (p.Gly23Cys) rs1131691186
NM_000077.5(CDKN2A):c.68G>A (p.Gly23Asp) rs1064794292
NM_000077.5(CDKN2A):c.95T>C (p.Leu32Pro) rs878853650
NM_058195.4(CDKN2A):c.193+1del rs1820525500
NM_058195.4(CDKN2A):c.193+2T>C rs2131147945
NM_058195.4(CDKN2A):c.193+5G>A rs587782083
NM_058195.4(CDKN2A):c.58del (p.Arg19_Val20insTer) rs1563902931

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