ClinVar Miner

List of variants in gene CDKN2A studied for Melanoma-pancreatic cancer syndrome

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Total variants: 100
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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 0.00527
NM_000077.5(CDKN2A):c.150+216A>G rs147602781 0.00277
NM_000077.5(CDKN2A):c.174A>C (p.Arg58=) rs201208890 0.00273
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891 0.00248
NM_000077.5(CDKN2A):c.458-491C>T rs181044510 0.00229
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_000077.5(CDKN2A):c.150+1104C>A rs756102261 0.00069
NM_000077.5(CDKN2A):c.150+280C>T rs150201743 0.00056
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=) rs4987127 0.00045
NM_000077.5(CDKN2A):c.298G>T (p.Ala100Ser) rs200863613 0.00038
NM_000077.5(CDKN2A):c.457+83C>T rs560686386 0.00038
NM_058195.4(CDKN2A):c.-28C>G rs149253558 0.00035
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.458-492G>C rs527814073 0.00021
NM_000077.5(CDKN2A):c.457+1129C>T rs774962789 0.00019
NM_000077.5(CDKN2A):c.151-14G>A rs767030551 0.00016
NM_000077.5(CDKN2A):c.365G>T (p.Gly122Val) rs373291490 0.00016
NM_000077.5(CDKN2A):c.384G>A (p.Arg128=) rs199901898 0.00016
NM_000077.5(CDKN2A):c.325G>C (p.Ala109Pro) rs372481694 0.00009
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_000077.5(CDKN2A):c.160A>C (p.Met54Leu) rs201314211 0.00005
NM_000077.5(CDKN2A):c.197A>G (p.His66Arg) rs756750256 0.00004
NM_000077.5(CDKN2A):c.150+40C>T rs1057517604 0.00003
NM_000077.5(CDKN2A):c.458-541A>G rs938889880 0.00003
NM_000077.5(CDKN2A):c.150+20C>T rs550846229 0.00002
NM_000077.5(CDKN2A):c.457+30C>T rs780868128 0.00002
NM_058195.4(CDKN2A):c.167G>A (p.Gly56Glu) rs748327367 0.00002
NM_058195.4(CDKN2A):c.92C>G (p.Thr31Arg) rs528789830 0.00002
NM_000077.5(CDKN2A):c.151-4G>C rs529380972 0.00001
NM_000077.5(CDKN2A):c.151-66A>G rs890179220 0.00001
NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp) rs749714198 0.00001
NM_000077.5(CDKN2A):c.301G>A (p.Gly101Arg) rs104894094 0.00001
NM_000077.5(CDKN2A):c.315C>A (p.Asp105Glu) rs763269347 0.00001
NM_000077.5(CDKN2A):c.32C>T (p.Pro11Leu) rs1374664673 0.00001
NM_000077.5(CDKN2A):c.333C>T (p.Gly111=) rs1490202463 0.00001
NM_000077.5(CDKN2A):c.415G>C (p.Gly139Arg) rs587781733 0.00001
NM_000077.5(CDKN2A):c.427G>A (p.Ala143Thr) rs754195015 0.00001
NM_000077.5(CDKN2A):c.458-525G>T rs1448745459 0.00001
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097 0.00001
NM_058195.4(CDKN2A):c.13T>A (p.Phe5Ile) rs776987532 0.00001
NM_058195.4(CDKN2A):c.193+7A>G rs770519197 0.00001
NM_058195.4(CDKN2A):c.46G>A (p.Gly16Ser) rs773459232 0.00001
NM_058195.4(CDKN2A):c.62G>A (p.Arg21Lys) rs1057517601 0.00001
NM_058195.4(CDKN2A):c.79A>C (p.Ile27Leu) rs1057517575 0.00001
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000077.5(CDKN2A):c.143C>G (p.Pro48Arg) rs763804037
NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser) rs199907548
NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg) rs587778189
NM_000077.5(CDKN2A):c.150+104_150+105del rs1057517608
NM_000077.5(CDKN2A):c.150+1104C>T rs756102261
NM_000077.5(CDKN2A):c.150+11G>A rs1587339427
NM_000077.5(CDKN2A):c.150+1255C>A rs2811708
NM_000077.5(CDKN2A):c.150+1255C>T
NM_000077.5(CDKN2A):c.150+137T>G rs1587338978
NM_000077.5(CDKN2A):c.150+170dup rs753316964
NM_000077.5(CDKN2A):c.150+193G>A rs1057517587
NM_000077.5(CDKN2A):c.150+1G>A
NM_000077.5(CDKN2A):c.150+71_150+76del rs753508262
NM_000077.5(CDKN2A):c.150+82A>G rs1231900408
NM_000077.5(CDKN2A):c.151-1G>A rs730881677
NM_000077.5(CDKN2A):c.165C>T (p.Gly55=)
NM_000077.5(CDKN2A):c.170C>T (p.Ala57Val) rs372266620
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly) rs104894099
NM_000077.5(CDKN2A):c.19_23dup (p.Ser8fs) rs2131114005
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.220G>C (p.Asp74His) rs760640852
NM_000077.5(CDKN2A):c.221A>C (p.Asp74Ala) rs200429615
NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs) rs730881674
NM_000077.5(CDKN2A):c.226_244del (p.Ala76fs) rs587776716
NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs) rs730881675
NM_000077.5(CDKN2A):c.247C>T (p.His83Tyr) rs121913385
NM_000077.5(CDKN2A):c.248A>G (p.His83Arg) rs1057519881
NM_000077.5(CDKN2A):c.250G>A (p.Asp84Asn) rs11552822
NM_000077.5(CDKN2A):c.266G>A (p.Gly89Asp) rs137854599
NM_000077.5(CDKN2A):c.26T>A (p.Met9Lys) rs145445140
NM_000077.5(CDKN2A):c.26T>C (p.Met9Thr) rs145445140
NM_000077.5(CDKN2A):c.281T>A (p.Leu94Gln) rs1819703656
NM_000077.5(CDKN2A):c.285_288dup (p.Leu97fs) rs2131094356
NM_000077.5(CDKN2A):c.295C>G (p.Arg99Gly) rs34886500
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000077.5(CDKN2A):c.331G>A (p.Gly111Ser) rs778971134
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000077.5(CDKN2A):c.369T>C (p.His123=) rs6413463
NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys) rs34170727
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) rs104894098
NM_000077.5(CDKN2A):c.379G>C (p.Ala127Pro) rs6413464
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr) rs45476696
NM_000077.5(CDKN2A):c.458-465G>C rs563204204
NM_000077.5(CDKN2A):c.68G>A (p.Gly23Asp) rs1064794292
NM_058195.4(CDKN2A):c.-33G>A rs1057517639
NM_058195.4(CDKN2A):c.106del (p.Ala36fs)
NM_058195.4(CDKN2A):c.194-3834C>G rs917599759
NM_058195.4(CDKN2A):c.194-3853_194-3852insGCG rs1587341124
NM_058195.4(CDKN2A):c.194-3854_194-3853insGTG rs1587341128
NM_058195.4(CDKN2A):c.43T>C (p.Cys15Arg) rs1554659236
NM_058195.4(CDKN2A):c.69C>A (p.Phe23Leu) rs374360796

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