ClinVar Miner

List of variants in gene CDKN2A reported as likely benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 203
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HGVS dbSNP gnomAD frequency
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891 0.00248
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_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.365G>T (p.Gly122Val) rs373291490 0.00016
NM_000077.5(CDKN2A):c.384G>A (p.Arg128=) rs199901898 0.00016
NM_000077.5(CDKN2A):c.261G>A (p.Arg87=) rs546300971 0.00010
NM_000077.5(CDKN2A):c.87G>A (p.Arg29=) rs540871544 0.00009
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.405G>A (p.Gly135=) rs751586391 0.00004
NM_000077.5(CDKN2A):c.147C>A (p.Ile49=) rs200738474 0.00003
NM_000077.5(CDKN2A):c.342C>G (p.Pro114=) rs878853648 0.00002
NM_000077.5(CDKN2A):c.459C>T (p.Asp153=) rs778871932 0.00002
NM_058195.4(CDKN2A):c.84G>C (p.Pro28=) rs751027808 0.00002
NM_058195.4(CDKN2A):c.92C>G (p.Thr31Arg) rs528789830 0.00002
NM_000077.5(CDKN2A):c.144G>A (p.Pro48=) rs876659638 0.00001
NM_000077.5(CDKN2A):c.219C>A (p.Ala73=) rs730881679 0.00001
NM_000077.5(CDKN2A):c.231T>C (p.Thr77=) rs1064793313 0.00001
NM_000077.5(CDKN2A):c.270C>T (p.Phe90=) rs746459174 0.00001
NM_000077.5(CDKN2A):c.297G>A (p.Arg99=) rs587778191 0.00001
NM_000077.5(CDKN2A):c.300C>T (p.Ala100=) rs876660818 0.00001
NM_000077.5(CDKN2A):c.320G>A (p.Arg107His) rs370823171 0.00001
NM_000077.5(CDKN2A):c.32C>T (p.Pro11Leu) rs1374664673 0.00001
NM_000077.5(CDKN2A):c.396G>C (p.Ala132=) rs745702441 0.00001
NM_000077.5(CDKN2A):c.39T>G (p.Ala13=) rs786201931 0.00001
NM_000077.5(CDKN2A):c.402G>T (p.Ala134=) rs878853649 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.468T>C (p.Asp156=) rs749753811 0.00001
NM_000077.5(CDKN2A):c.54G>A (p.Thr18=) rs765702324 0.00001
NM_000077.5(CDKN2A):c.57C>T (p.Ala19=) rs1060504186 0.00001
NM_058195.4(CDKN2A):c.115G>A (p.Ala39Thr) rs1064795551 0.00001
NM_058195.4(CDKN2A):c.135C>G (p.Leu45=) rs766676234 0.00001
NM_058195.4(CDKN2A):c.187A>C (p.Arg63=) rs1190780216 0.00001
NM_058195.4(CDKN2A):c.36G>T (p.Arg12=) rs1305455942 0.00001
NM_058195.4(CDKN2A):c.39C>T (p.Arg13=) rs747061582 0.00001
NM_058195.4(CDKN2A):c.42G>A (p.Ala14=) rs1288648134 0.00001
NM_000077.5(CDKN2A):c.105G>A (p.Gly35=) rs2131112602
NM_000077.5(CDKN2A):c.108G>C (p.Ala36=) rs1587339774
NM_000077.5(CDKN2A):c.109C>T (p.Leu37=)
NM_000077.5(CDKN2A):c.110T>C (p.Leu37Pro)
NM_000077.5(CDKN2A):c.111G>A (p.Leu37=) rs1016841954
NM_000077.5(CDKN2A):c.114C>T (p.Pro38=)
NM_000077.5(CDKN2A):c.117C>T (p.Asn39=) rs864622439
NM_000077.5(CDKN2A):c.123G>A (p.Pro41=) rs754366579
NM_000077.5(CDKN2A):c.126T>C (p.Asn42=) rs1587339638
NM_000077.5(CDKN2A):c.132C>T (p.Tyr44=) rs1554656253
NM_000077.5(CDKN2A):c.138G>C (p.Arg46=)
NM_000077.5(CDKN2A):c.139A>C (p.Arg47=) rs773755761
NM_000077.5(CDKN2A):c.147C>T (p.Ile49=) rs200738474
NM_000077.5(CDKN2A):c.15G>T (p.Ala5=) rs768278082
NM_000077.5(CDKN2A):c.169G>A (p.Ala57Thr)
NM_000077.5(CDKN2A):c.170C>T (p.Ala57Val) rs372266620
NM_000077.5(CDKN2A):c.171C>T (p.Ala57=) rs876658199
NM_000077.5(CDKN2A):c.174A>G (p.Arg58=) rs201208890
NM_000077.5(CDKN2A):c.17G>A (p.Gly6Glu) rs864622656
NM_000077.5(CDKN2A):c.180G>A (p.Ala60=) rs1286147184
NM_000077.5(CDKN2A):c.186G>A (p.Leu62=) rs730881678
NM_000077.5(CDKN2A):c.18G>A (p.Gly6=)
NM_000077.5(CDKN2A):c.18G>T (p.Gly6=) rs1819965928
NM_000077.5(CDKN2A):c.195C>G (p.Leu65=) rs780893836
NM_000077.5(CDKN2A):c.195C>T (p.Leu65=)
NM_000077.5(CDKN2A):c.201C>A (p.Gly67=)
NM_000077.5(CDKN2A):c.204G>A (p.Ala68=) rs1587332243
NM_000077.5(CDKN2A):c.207G>A (p.Glu69=) rs1587332220
NM_000077.5(CDKN2A):c.20G>A (p.Ser7Asn)
NM_000077.5(CDKN2A):c.213C>T (p.Asn71=) rs2131095688
NM_000077.5(CDKN2A):c.225C>A (p.Pro75=) rs762397298
NM_000077.5(CDKN2A):c.225C>T (p.Pro75=) rs762397298
NM_000077.5(CDKN2A):c.237C>A (p.Thr79=)
NM_000077.5(CDKN2A):c.240A>G (p.Arg80=) rs1339638227
NM_000077.5(CDKN2A):c.243C>G (p.Pro81=) rs1060504185
NM_000077.5(CDKN2A):c.243C>T (p.Pro81=) rs1060504185
NM_000077.5(CDKN2A):c.246G>A (p.Val82=) rs1060504181
NM_000077.5(CDKN2A):c.246G>T (p.Val82=)
NM_000077.5(CDKN2A):c.249C>T (p.His83=) rs34968276
NM_000077.5(CDKN2A):c.252C>T (p.Asp84=) rs1472715728
NM_000077.5(CDKN2A):c.264G>A (p.Glu88=) rs1819706385
NM_000077.5(CDKN2A):c.26T>A (p.Met9Lys) rs145445140
NM_000077.5(CDKN2A):c.279G>A (p.Thr93=)
NM_000077.5(CDKN2A):c.27G>T (p.Met9Ile)
NM_000077.5(CDKN2A):c.280C>T (p.Leu94=)
NM_000077.5(CDKN2A):c.282G>A (p.Leu94=) rs1064793589
NM_000077.5(CDKN2A):c.288G>A (p.Val96=) rs557319056
NM_000077.5(CDKN2A):c.291G>C (p.Leu97=) rs1587331492
NM_000077.5(CDKN2A):c.294C>T (p.His98=) rs752685118
NM_000077.5(CDKN2A):c.295C>A (p.Arg99=) rs34886500
NM_000077.5(CDKN2A):c.295C>G (p.Arg99Gly) rs34886500
NM_000077.5(CDKN2A):c.303G>A (p.Gly101=)
NM_000077.5(CDKN2A):c.306G>T (p.Ala102=) rs1064794863
NM_000077.5(CDKN2A):c.309G>A (p.Arg103=) rs1587331310
NM_000077.5(CDKN2A):c.30G>T (p.Glu10Asp)
NM_000077.5(CDKN2A):c.312G>A (p.Leu104=)
NM_000077.5(CDKN2A):c.315C>T (p.Asp105=) rs763269347
NM_000077.5(CDKN2A):c.319C>T (p.Arg107Cys) rs1554654024
NM_000077.5(CDKN2A):c.321C>T (p.Arg107=)
NM_000077.5(CDKN2A):c.327C>G (p.Ala109=) rs1060504187
NM_000077.5(CDKN2A):c.327C>T (p.Ala109=) rs1060504187
NM_000077.5(CDKN2A):c.337C>T (p.Leu113=)
NM_000077.5(CDKN2A):c.345G>A (p.Val115=) rs1819693631
NM_000077.5(CDKN2A):c.349C>T (p.Leu117=) rs767692456
NM_000077.5(CDKN2A):c.360G>A (p.Glu120=) rs757308315
NM_000077.5(CDKN2A):c.361C>G (p.Leu121Val) rs142371511
NM_000077.5(CDKN2A):c.361C>T (p.Leu121=) rs142371511
NM_000077.5(CDKN2A):c.362T>G (p.Leu121Arg)
NM_000077.5(CDKN2A):c.366C>T (p.Gly122=) rs2131092946
NM_000077.5(CDKN2A):c.369T>C (p.His123=) rs6413463
NM_000077.5(CDKN2A):c.36G>A (p.Ser12=) rs1313234793
NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys) rs34170727
NM_000077.5(CDKN2A):c.372C>T (p.Arg124=) rs2131092856
NM_000077.5(CDKN2A):c.387C>T (p.Tyr129=) rs1554653922
NM_000077.5(CDKN2A):c.390G>A (p.Leu130=)
NM_000077.5(CDKN2A):c.393C>G (p.Arg131=) rs1476521287
NM_000077.5(CDKN2A):c.393C>T (p.Arg131=) rs1476521287
NM_000077.5(CDKN2A):c.396G>A (p.Ala132=)
NM_000077.5(CDKN2A):c.402G>A (p.Ala134=) rs878853649
NM_000077.5(CDKN2A):c.405G>T (p.Gly135=)
NM_000077.5(CDKN2A):c.408C>T (p.Gly136=)
NM_000077.5(CDKN2A):c.411C>A (p.Thr137=)
NM_000077.5(CDKN2A):c.411C>T (p.Thr137=)
NM_000077.5(CDKN2A):c.414A>G (p.Arg138=)
NM_000077.5(CDKN2A):c.420T>C (p.Ser140=)
NM_000077.5(CDKN2A):c.423C>A (p.Asn141Lys) rs1819683853
NM_000077.5(CDKN2A):c.423C>T (p.Asn141=) rs1819683853
NM_000077.5(CDKN2A):c.429C>A (p.Ala143=) rs1060504183
NM_000077.5(CDKN2A):c.433A>C (p.Ile145Leu)
NM_000077.5(CDKN2A):c.434T>C (p.Ile145Thr) rs730881680
NM_000077.5(CDKN2A):c.441C>A (p.Ala147=) rs1057524065
NM_000077.5(CDKN2A):c.441C>T (p.Ala147=)
NM_000077.5(CDKN2A):c.444G>C (p.Ala148=) rs768280139
NM_000077.5(CDKN2A):c.447A>G (p.Glu149=) rs1587330369
NM_000077.5(CDKN2A):c.450T>C (p.Gly150=) rs762612798
NM_000077.5(CDKN2A):c.453C>G (p.Pro151=)
NM_000077.5(CDKN2A):c.453C>T (p.Pro151=)
NM_000077.5(CDKN2A):c.458-4G>A
NM_000077.5(CDKN2A):c.458-4G>C rs876660514
NM_000077.5(CDKN2A):c.462C>A (p.Ile154=) rs1554653281
NM_000077.5(CDKN2A):c.465C>G (p.Pro155=) rs1471079871
NM_000077.5(CDKN2A):c.465C>T (p.Pro155=) rs1471079871
NM_000077.5(CDKN2A):c.466G>A (p.Asp156Asn) rs755445934
NM_000077.5(CDKN2A):c.51C>G (p.Ala17=) rs764362225
NM_000077.5(CDKN2A):c.51C>T (p.Ala17=) rs764362225
NM_000077.5(CDKN2A):c.54G>C (p.Thr18=)
NM_000077.5(CDKN2A):c.57C>G (p.Ala19=) rs1060504186
NM_000077.5(CDKN2A):c.60G>C (p.Ala20=) rs1819956695
NM_000077.5(CDKN2A):c.66G>A (p.Arg22=) rs776810546
NM_000077.5(CDKN2A):c.71G>A (p.Arg24Gln) rs104894097
NM_000077.5(CDKN2A):c.72G>C (p.Arg24=)
NM_000077.5(CDKN2A):c.72G>T (p.Arg24=) rs1449870708
NM_000077.5(CDKN2A):c.75A>G (p.Val25=) rs980682752
NM_000077.5(CDKN2A):c.78G>A (p.Glu26=)
NM_000077.5(CDKN2A):c.81G>A (p.Glu27=) rs1060504184
NM_000077.5(CDKN2A):c.85C>A (p.Arg29=) rs1554656382
NM_000077.5(CDKN2A):c.87G>C (p.Arg29=) rs540871544
NM_000077.5(CDKN2A):c.89C>A (p.Ala30Glu)
NM_000077.5(CDKN2A):c.90G>A (p.Ala30=) rs1563892643
NM_000077.5(CDKN2A):c.91C>T (p.Leu31=) rs1819951961
NM_000077.5(CDKN2A):c.94C>T (p.Leu32=) rs745827714
NM_058195.4(CDKN2A):c.105A>C (p.Ala35=)
NM_058195.4(CDKN2A):c.108G>A (p.Ala36=) rs2131148456
NM_058195.4(CDKN2A):c.111A>G (p.Pro37=) rs1039977006
NM_058195.4(CDKN2A):c.114G>A (p.Gly38=)
NM_058195.4(CDKN2A):c.117G>T (p.Ala39=)
NM_058195.4(CDKN2A):c.120C>T (p.Pro40=)
NM_058195.4(CDKN2A):c.132C>A (p.Ala44=)
NM_058195.4(CDKN2A):c.135C>T (p.Leu45=) rs766676234
NM_058195.4(CDKN2A):c.138G>A (p.Val46=) rs761002695
NM_058195.4(CDKN2A):c.145C>T (p.Leu49=) rs1554659187
NM_058195.4(CDKN2A):c.147A>G (p.Leu49=)
NM_058195.4(CDKN2A):c.153G>A (p.Arg51=) rs773369448
NM_058195.4(CDKN2A):c.163C>T (p.Leu55=)
NM_058195.4(CDKN2A):c.165A>G (p.Leu55=)
NM_058195.4(CDKN2A):c.168G>A (p.Gly56=) rs2131148111
NM_058195.4(CDKN2A):c.171G>A (p.Gln57=)
NM_058195.4(CDKN2A):c.174G>A (p.Gln58=)
NM_058195.4(CDKN2A):c.177G>A (p.Pro59=) rs878853643
NM_058195.4(CDKN2A):c.177G>C (p.Pro59=) rs878853643
NM_058195.4(CDKN2A):c.27C>G (p.Leu9=) rs1221654243
NM_058195.4(CDKN2A):c.30G>A (p.Arg10=) rs876658436
NM_058195.4(CDKN2A):c.30G>T (p.Arg10=) rs876658436
NM_058195.4(CDKN2A):c.36G>A (p.Arg12=)
NM_058195.4(CDKN2A):c.39C>G (p.Arg13=) rs747061582
NM_058195.4(CDKN2A):c.40G>A (p.Ala14Thr) rs1241364288
NM_058195.4(CDKN2A):c.42G>C (p.Ala14=) rs1288648134
NM_058195.4(CDKN2A):c.48C>T (p.Gly16=) rs786202556
NM_058195.4(CDKN2A):c.51G>T (p.Pro17=) rs2131148827
NM_058195.4(CDKN2A):c.72G>A (p.Val24=) rs2131148725
NM_058195.4(CDKN2A):c.72G>C (p.Val24=) rs2131148725
NM_058195.4(CDKN2A):c.75T>C (p.Val25=) rs1057522328
NM_058195.4(CDKN2A):c.78C>T (p.His26=) rs756946306
NM_058195.4(CDKN2A):c.81C>T (p.Ile27=) rs1413839473
NM_058195.4(CDKN2A):c.84G>A (p.Pro28=) rs751027808
NM_058195.4(CDKN2A):c.84G>T (p.Pro28=)
NM_058195.4(CDKN2A):c.90C>A (p.Leu30=)
NM_058195.4(CDKN2A):c.90C>T (p.Leu30=) rs786201711
NM_058195.4(CDKN2A):c.91A>G (p.Thr31Ala)
NM_058195.4(CDKN2A):c.93G>C (p.Thr31=) rs1330218502
NM_058195.4(CDKN2A):c.93G>T (p.Thr31=)
NM_058195.4(CDKN2A):c.96G>A (p.Gly32=)
NM_058195.4(CDKN2A):c.9C>A (p.Arg3=)

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