ClinVar Miner

List of variants studied for Melanoma and neural system tumor syndrome

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Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_000077.5(CDKN2A):c.150+1104C>A rs756102261 0.00069
NM_000077.5(CDKN2A):c.365G>T (p.Gly122Val) rs373291490 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_058195.4(CDKN2A):c.160C>A (p.Arg54Ser) rs896054565 0.00006
NM_058195.4(CDKN2A):c.94G>A (p.Gly32Arg) rs879254043 0.00006
NM_000077.5(CDKN2A):c.160A>C (p.Met54Leu) rs201314211 0.00005
NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly) rs372670098 0.00003
NM_000077.5(CDKN2A):c.25A>T (p.Met9Leu) rs748866274 0.00003
NM_000077.5(CDKN2A):c.122C>A (p.Pro41Gln) rs373407950 0.00002
NM_058195.4(CDKN2A):c.167G>A (p.Gly56Glu) rs748327367 0.00002
NM_058195.4(CDKN2A):c.77A>G (p.His26Arg) rs780803896 0.00002
NM_058195.4(CDKN2A):c.97G>A (p.Glu33Lys) rs1287464120 0.00002
NM_000077.5(CDKN2A):c.106G>A (p.Ala36Thr) rs777948908 0.00001
NM_000077.5(CDKN2A):c.155T>C (p.Met52Thr) rs752573958 0.00001
NM_000077.5(CDKN2A):c.159G>C (p.Met53Ile) rs104894095 0.00001
NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp) rs749714198 0.00001
NM_000077.5(CDKN2A):c.307C>T (p.Arg103Trp) rs767642535 0.00001
NM_000077.5(CDKN2A):c.315C>A (p.Asp105Glu) rs763269347 0.00001
NM_000077.5(CDKN2A):c.320G>A (p.Arg107His) rs370823171 0.00001
NM_000077.5(CDKN2A):c.343G>T (p.Val115Leu) rs779913365 0.00001
NM_000077.5(CDKN2A):c.344T>A (p.Val115Glu) rs750655995 0.00001
NM_000077.5(CDKN2A):c.415G>C (p.Gly139Arg) rs587781733 0.00001
NM_000077.5(CDKN2A):c.449G>A (p.Gly150Asp) rs1181255434 0.00001
NM_000077.5(CDKN2A):c.458-105A>G rs1060501266 0.00001
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097 0.00001
NM_000077.5(CDKN2A):c.94C>G (p.Leu32Val) rs745827714 0.00001
NM_058195.4(CDKN2A):c.136G>A (p.Val46Met) rs786203467 0.00001
NM_058195.4(CDKN2A):c.35G>A (p.Arg12Gln) rs201877069 0.00001
NM_058195.4(CDKN2A):c.46G>A (p.Gly16Ser) rs773459232 0.00001
NM_058195.4(CDKN2A):c.49C>T (p.Pro17Ser) rs3731190 0.00001
NC_000009.12:g.21977568_21999392del
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del) rs587780668
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000077.5(CDKN2A):c.107C>T (p.Ala36Val) rs200382984
NM_000077.5(CDKN2A):c.116A>G (p.Asn39Ser)
NM_000077.5(CDKN2A):c.116A>T (p.Asn39Ile)
NM_000077.5(CDKN2A):c.131dup (p.Tyr44Ter) rs730881673
NM_000077.5(CDKN2A):c.136C>T (p.Arg46Trp) rs1563892516
NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser) rs199907548
NM_000077.5(CDKN2A):c.148C>T (p.Gln50Ter) rs864622636
NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg) rs587778189
NM_000077.5(CDKN2A):c.149A>T (p.Gln50Leu) rs587778189
NM_000077.5(CDKN2A):c.150+5del rs1235245881
NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile) rs104894095
NM_000077.5(CDKN2A):c.168C>A (p.Ser56Arg) rs771138120
NM_000077.5(CDKN2A):c.170C>A (p.Ala57Asp) rs372266620
NM_000077.5(CDKN2A):c.170C>G (p.Ala57Gly) rs372266620
NM_000077.5(CDKN2A):c.172C>G (p.Arg58Gly) rs121913387
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly) rs104894099
NM_000077.5(CDKN2A):c.177G>T (p.Val59=)
NM_000077.5(CDKN2A):c.182_185dup (p.Leu63fs)
NM_000077.5(CDKN2A):c.199G>C (p.Gly67Arg) rs758389471
NM_000077.5(CDKN2A):c.203C>T (p.Ala68Val) rs1060501260
NM_000077.5(CDKN2A):c.212del (p.Asn71fs) rs876658220
NM_000077.5(CDKN2A):c.214T>A (p.Cys72Ser) rs1554654142
NM_000077.5(CDKN2A):c.219C>T (p.Ala73=) rs730881679
NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs) rs730881674
NM_000077.5(CDKN2A):c.225_243dup (p.Val82fs)
NM_000077.5(CDKN2A):c.247C>T (p.His83Tyr) rs121913385
NM_000077.5(CDKN2A):c.251A>C (p.Asp84Ala) rs587782792
NM_000077.5(CDKN2A):c.253G>A (p.Ala85Thr) rs878853646
NM_000077.5(CDKN2A):c.253G>T (p.Ala85Ser) rs878853646
NM_000077.5(CDKN2A):c.256G>T (p.Ala86Ser)
NM_000077.5(CDKN2A):c.260G>C (p.Arg87Pro) rs878853647
NM_000077.5(CDKN2A):c.260G>T (p.Arg87Leu)
NM_000077.5(CDKN2A):c.266G>T (p.Gly89Val)
NM_000077.5(CDKN2A):c.278C>A (p.Thr93Lys)
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.302G>T (p.Gly101Val)
NM_000077.5(CDKN2A):c.320G>C (p.Arg107Pro) rs370823171
NM_000077.5(CDKN2A):c.332G>T (p.Gly111Val) rs2131093568
NM_000077.5(CDKN2A):c.334C>G (p.Arg112Gly) rs876660436
NM_000077.5(CDKN2A):c.335_337dup (p.Arg112dup) rs768966657
NM_000077.5(CDKN2A):c.343G>C (p.Val115Leu)
NM_000077.5(CDKN2A):c.359_360dup (p.Leu121fs) rs1563888944
NM_000077.5(CDKN2A):c.35C>G (p.Ser12Trp) rs141798398
NM_000077.5(CDKN2A):c.361C>G (p.Leu121Val) rs142371511
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.37G>T (p.Ala13Ser) rs1416122398
NM_000077.5(CDKN2A):c.385T>C (p.Tyr129His)
NM_000077.5(CDKN2A):c.404G>T (p.Gly135Val) rs1182554152
NM_000077.5(CDKN2A):c.407dup (p.Thr137fs) rs749588877
NM_000077.5(CDKN2A):c.428C>G (p.Ala143Gly) rs767149947
NM_000077.5(CDKN2A):c.428C>T (p.Ala143Val)
NM_000077.5(CDKN2A):c.437A>G (p.Asp146Gly)
NM_000077.5(CDKN2A):c.457+1_457+10del rs1587330284
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr) rs45476696
NM_000077.5(CDKN2A):c.45G>T (p.Trp15Cys) rs138677674
NM_000077.5(CDKN2A):c.58G>T (p.Ala20Ser) rs760065045
NM_000077.5(CDKN2A):c.61G>A (p.Ala21Thr) rs1064793082
NM_000077.5(CDKN2A):c.64C>G (p.Arg22Gly) rs374921006
NM_000077.5(CDKN2A):c.64C>T (p.Arg22Trp) rs374921006
NM_000077.5(CDKN2A):c.67G>A (p.Gly23Ser) rs1131691186
NM_000077.5(CDKN2A):c.67G>T (p.Gly23Cys) rs1131691186
NM_000077.5(CDKN2A):c.71G>T (p.Arg24Leu) rs104894097
NM_000077.5(CDKN2A):c.73G>T (p.Val25Leu) rs2131113089
NM_000077.5(CDKN2A):c.79G>T (p.Glu27Ter) rs1554656411
NM_000077.5(CDKN2A):c.82G>T (p.Val28Leu) rs876658895
NM_000077.5(CDKN2A):c.85C>T (p.Arg29Trp) rs1554656382
NM_058195.4(CDKN2A):c.133C>G (p.Leu45Val) rs1554659193
NM_058195.4(CDKN2A):c.133del (p.Leu45fs) rs2131148265
NM_058195.4(CDKN2A):c.155G>A (p.Ser52Asn)
NM_058195.4(CDKN2A):c.15C>G (p.Phe5Leu) rs1587358694
NM_058195.4(CDKN2A):c.160C>T (p.Arg54Cys) rs896054565
NM_058195.4(CDKN2A):c.170A>G (p.Gln57Arg) rs774711850
NM_058195.4(CDKN2A):c.185G>T (p.Arg62Ile) rs1369774700
NM_058195.4(CDKN2A):c.194-3646_194-3624del rs757137815
NM_058195.4(CDKN2A):c.194-3653G>T rs1800586
NM_058195.4(CDKN2A):c.38G>A (p.Arg13His)
NM_058195.4(CDKN2A):c.50C>T (p.Pro17Leu) rs1820534329
NM_058195.4(CDKN2A):c.97dup (p.Glu33fs) rs779306249

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