ClinVar Miner

List of variants in gene CDKN2A reported by Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

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Gene type:
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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249 0.02007
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464 0.00490
NM_000077.5(CDKN2A):c.174A>C (p.Arg58=) rs201208890 0.00273
NM_058195.4(CDKN2A):c.193+37G>C rs116512824 0.00224
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_000077.5(CDKN2A):c.151-4G>C rs529380972 0.00055
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=) rs4987127 0.00045
NM_000077.5(CDKN2A):c.318G>A (p.Val106=) rs199888003 0.00026
NM_058195.4(CDKN2A):c.69C>T (p.Phe23=) rs374360796 0.00024
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His) rs146179135 0.00022
NM_000077.5(CDKN2A):c.51C>A (p.Ala17=) rs764362225 0.00019
NM_000077.5(CDKN2A):c.384G>A (p.Arg128=) rs199901898 0.00016
NM_000077.5(CDKN2A):c.197A>G (p.His66Arg) rs756750256 0.00009
NM_000077.5(CDKN2A):c.405G>A (p.Gly135=) rs751586391 0.00009
NM_000077.5(CDKN2A):c.150+27A>C rs762508111 0.00006
NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly) rs372670098 0.00003
NM_058195.4(CDKN2A):c.193+16G>A rs752309957 0.00003
NM_058195.4(CDKN2A):c.56G>T (p.Arg19Leu) rs748616717 0.00003
NM_000077.5(CDKN2A):c.151G>A (p.Val51Ile) rs762630679 0.00002
NM_000077.5(CDKN2A):c.198C>T (p.His66=) rs374984975 0.00002
NM_000077.5(CDKN2A):c.224C>T (p.Pro75Leu) rs772411700 0.00001
NM_001363763.2(CDKN2A):c.-4+384C>T rs1417624311 0.00001
NM_058195.4(CDKN2A):c.-39G>A rs1064793537 0.00001
NM_058195.4(CDKN2A):c.178C>T (p.Leu60Phe) rs769257927 0.00001
NM_058195.4(CDKN2A):c.193+13C>T rs777267719 0.00001
NM_058195.4(CDKN2A):c.193+28G>A rs760914174 0.00001
NM_000077.5(CDKN2A):c.*7C>A
NM_000077.5(CDKN2A):c.103G>A (p.Gly35Arg) rs757066045
NM_000077.5(CDKN2A):c.150+25G>T
NM_000077.5(CDKN2A):c.150+40C>G rs1057517604
NM_000077.5(CDKN2A):c.151-45T>C rs1467252121
NM_000077.5(CDKN2A):c.151-49G>A rs770185519
NM_000077.5(CDKN2A):c.278C>T (p.Thr93Met) rs876659723
NM_000077.5(CDKN2A):c.301G>C (p.Gly101Arg) rs104894094
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys) rs34170727
NM_000077.5(CDKN2A):c.373G>A (p.Asp125Asn) rs146179135
NM_000077.5(CDKN2A):c.457+42C>G
NM_000077.5(CDKN2A):c.59C>T (p.Ala20Val) rs864622484
NM_001363763.2(CDKN2A):c.-4+388G>C rs2489329388
NM_058195.4(CDKN2A):c.-24C>G rs2131149206
NM_058195.4(CDKN2A):c.-2A>C
NM_058195.4(CDKN2A):c.-54G>A rs1443586456
NM_058195.4(CDKN2A):c.135C>T (p.Leu45=) rs766676234
NM_058195.4(CDKN2A):c.193+13del rs2489326510
NM_058195.4(CDKN2A):c.194-3667G>C

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