List of variants in gene CDK4 reported as likely benign for familial melanoma

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 200

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HGVS	dbSNP	gnomAD frequency
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys)	rs140644696	0.00029
NM_000075.4(CDK4):c.306A>G (p.Thr102=)	rs201202764	0.00019
NC_000012.12:g.57752476A>G	rs865902881	0.00017
NM_000075.4(CDK4):c.423G>C (p.Leu141=)	rs760242081	0.00003
NM_000075.4(CDK4):c.522+8G>A	rs758294834	0.00003
NM_000075.4(CDK4):c.549C>T (p.Pro183=)	rs778696237	0.00003
NM_000075.4(CDK4):c.84T>C (p.Ser28=)	rs763203404	0.00003
NM_000075.4(CDK4):c.279T>C (p.Phe93=)	rs1478574297	0.00002
NM_000075.4(CDK4):c.354+9G>T	rs771456729	0.00002
NM_000075.4(CDK4):c.632+14A>G	rs542680423	0.00002
NM_000075.4(CDK4):c.96G>C (p.Val32=)	rs563392051	0.00002
NM_000075.4(CDK4):c.14G>A (p.Arg5Gln)	rs1031329993	0.00001
NM_000075.4(CDK4):c.219-10C>T	rs759302811	0.00001
NM_000075.4(CDK4):c.219-5G>C	rs1286893141	0.00001
NM_000075.4(CDK4):c.219-7T>C	rs543798269	0.00001
NM_000075.4(CDK4):c.222G>A (p.Leu74=)	rs565645344	0.00001
NM_000075.4(CDK4):c.228C>T (p.Asp76=)	rs772531745	0.00001
NM_000075.4(CDK4):c.252C>T (p.Asp84=)	rs780590939	0.00001
NM_000075.4(CDK4):c.288A>G (p.Val96=)	rs754092304	0.00001
NM_000075.4(CDK4):c.309T>C (p.Tyr103=)	rs554603181	0.00001
NM_000075.4(CDK4):c.348G>A (p.Thr116=)	rs761353033	0.00001
NM_000075.4(CDK4):c.354+19C>T	rs587780884	0.00001
NM_000075.4(CDK4):c.355-12C>T	rs1004281478	0.00001
NM_000075.4(CDK4):c.355-3T>C	rs771392563	0.00001
NM_000075.4(CDK4):c.365G>A (p.Arg122His)	rs34386532	0.00001
NM_000075.4(CDK4):c.402T>C (p.Asn134=)	rs537039467	0.00001
NM_000075.4(CDK4):c.481C>T (p.Leu161=)	rs796860515	0.00001
NM_000075.4(CDK4):c.486C>G (p.Ala162=)	rs1595110441	0.00001
NM_000075.4(CDK4):c.501C>T (p.Tyr167=)	rs1316207187	0.00001
NM_000075.4(CDK4):c.504G>A (p.Gln168=)	rs770086242	0.00001
NM_000075.4(CDK4):c.519C>T (p.Pro173=)	rs747084709	0.00001
NM_000075.4(CDK4):c.522+19C>T	rs1955228699	0.00001
NM_000075.4(CDK4):c.523-11A>G	rs958372242	0.00001
NM_000075.4(CDK4):c.523-16T>C	rs368524338	0.00001
NM_000075.4(CDK4):c.523-4T>A	rs587780667	0.00001
NM_000075.4(CDK4):c.534C>T (p.Leu178=)	rs11547327	0.00001
NM_000075.4(CDK4):c.543A>C (p.Arg181=)	rs745772539	0.00001
NM_000075.4(CDK4):c.597T>C (p.Ser199=)	rs1260582581	0.00001
NM_000075.4(CDK4):c.60G>A (p.Val20=)	rs1595111186	0.00001
NM_000075.4(CDK4):c.632+16A>G	rs1240250642	0.00001
NM_000075.4(CDK4):c.632+20T>C	rs1027049979	0.00001
NM_000075.4(CDK4):c.632+6G>A	rs762362960	0.00001
NM_000075.4(CDK4):c.632+8A>G	rs1269709231	0.00001
NM_000075.4(CDK4):c.632+9C>T	rs1192976748	0.00001
NM_000075.4(CDK4):c.87C>T (p.Gly29=)	rs1555201376	0.00001
NM_000075.4(CDK4):c.102C>G (p.Leu34=)	rs758515796
NM_000075.4(CDK4):c.105G>A (p.Lys35=)	rs2140388473
NM_000075.4(CDK4):c.111G>A (p.Val37=)	rs1456215691
NM_000075.4(CDK4):c.117C>A (p.Val39=)	rs1595111112
NM_000075.4(CDK4):c.117C>T (p.Val39=)	rs1595111112
NM_000075.4(CDK4):c.12T>C (p.Ser4=)	rs1595111261
NM_000075.4(CDK4):c.15A>G (p.Arg5=)
NM_000075.4(CDK4):c.219-11A>G
NM_000075.4(CDK4):c.219-11A>T
NM_000075.4(CDK4):c.219-14T>C	rs2140387656
NM_000075.4(CDK4):c.219-15dup
NM_000075.4(CDK4):c.219-17G>A	rs767249235
NM_000075.4(CDK4):c.219-17G>C	rs767249235
NM_000075.4(CDK4):c.219-17_219-16delinsAT
NM_000075.4(CDK4):c.219-18A>T
NM_000075.4(CDK4):c.219-20T>C
NM_000075.4(CDK4):c.219-4T>C	rs2140387627
NM_000075.4(CDK4):c.219-5del	rs2140387632
NM_000075.4(CDK4):c.219-6G>T
NM_000075.4(CDK4):c.219-8C>G
NM_000075.4(CDK4):c.219-9T>C	rs2140387639
NM_000075.4(CDK4):c.21G>A (p.Glu7=)	rs2140388761
NM_000075.4(CDK4):c.222G>T (p.Leu74=)	rs565645344
NM_000075.4(CDK4):c.243C>T (p.Ser81=)
NM_000075.4(CDK4):c.246A>C (p.Arg82=)	rs2140387517
NM_000075.4(CDK4):c.249T>G (p.Thr83=)
NM_000075.4(CDK4):c.258G>A (p.Glu86=)	rs1247612368
NM_000075.4(CDK4):c.261C>A (p.Ile87=)	rs779482890
NM_000075.4(CDK4):c.261C>T (p.Ile87=)	rs779482890
NM_000075.4(CDK4):c.264G>A (p.Lys88=)	rs2140387452
NM_000075.4(CDK4):c.267A>G (p.Val89=)	rs886049715
NM_000075.4(CDK4):c.270C>T (p.Thr90=)	rs2140387429
NM_000075.4(CDK4):c.271C>T (p.Leu91=)	rs949558438
NM_000075.4(CDK4):c.276G>A (p.Val92=)	rs918094121
NM_000075.4(CDK4):c.276G>T (p.Val92=)
NM_000075.4(CDK4):c.27G>A (p.Val9=)	rs2140388745
NM_000075.4(CDK4):c.285T>C (p.His95=)	rs757492324
NM_000075.4(CDK4):c.297C>T (p.Asp99=)	rs1595110736
NM_000075.4(CDK4):c.298C>T (p.Leu100=)
NM_000075.4(CDK4):c.300A>G (p.Leu100=)	rs2140387344
NM_000075.4(CDK4):c.306A>C (p.Thr102=)	rs201202764
NM_000075.4(CDK4):c.312G>A (p.Leu104=)	rs2140387313
NM_000075.4(CDK4):c.324C>T (p.Pro108=)
NM_000075.4(CDK4):c.333C>A (p.Gly111=)	rs1595110689
NM_000075.4(CDK4):c.333C>T (p.Gly111=)	rs1595110689
NM_000075.4(CDK4):c.339A>T (p.Pro113=)	rs2140387235
NM_000075.4(CDK4):c.342C>G (p.Ala114=)	rs762471901
NM_000075.4(CDK4):c.342C>T (p.Ala114=)	rs762471901
NM_000075.4(CDK4):c.351C>A (p.Ile117=)
NM_000075.4(CDK4):c.354+10G>A	rs1955232744
NM_000075.4(CDK4):c.354+10G>C
NM_000075.4(CDK4):c.354+11T>G
NM_000075.4(CDK4):c.354+12T>G
NM_000075.4(CDK4):c.354+14G>A
NM_000075.4(CDK4):c.354+15T>C	rs2140387135
NM_000075.4(CDK4):c.354+16A>G	rs2140387134
NM_000075.4(CDK4):c.354+17G>C
NM_000075.4(CDK4):c.354+18G>A
NM_000075.4(CDK4):c.354+3G>A	rs746395249
NM_000075.4(CDK4):c.354+8G>C	rs2140387160
NM_000075.4(CDK4):c.354+9G>C	rs771456729
NM_000075.4(CDK4):c.355-10T>C	rs1595110574
NM_000075.4(CDK4):c.355-13C>G	rs2140386844
NM_000075.4(CDK4):c.355-14C>T
NM_000075.4(CDK4):c.355-16T>C	rs1404144583
NM_000075.4(CDK4):c.355-17C>T
NM_000075.4(CDK4):c.355-18C>T
NM_000075.4(CDK4):c.355-4C>T	rs1406247863
NM_000075.4(CDK4):c.355-7A>C
NM_000075.4(CDK4):c.358C>T (p.Leu120=)
NM_000075.4(CDK4):c.369G>A (p.Gln123=)	rs1955231243
NM_000075.4(CDK4):c.372T>C (p.Phe124=)	rs748374728
NM_000075.4(CDK4):c.373C>T (p.Leu125=)
NM_000075.4(CDK4):c.375A>G (p.Leu125=)	rs2640603
NM_000075.4(CDK4):c.381C>T (p.Gly127=)	rs781207390
NM_000075.4(CDK4):c.382C>T (p.Leu128=)
NM_000075.4(CDK4):c.390C>T (p.Phe130=)
NM_000075.4(CDK4):c.399C>T (p.Ala133=)	rs2140386689
NM_000075.4(CDK4):c.39T>A (p.Gly13=)	rs1595111230
NM_000075.4(CDK4):c.408C>A (p.Ile136=)	rs758331285
NM_000075.4(CDK4):c.408C>T (p.Ile136=)	rs758331285
NM_000075.4(CDK4):c.420T>C (p.Asp140=)	rs863224321
NM_000075.4(CDK4):c.423G>A (p.Leu141=)	rs760242081
NM_000075.4(CDK4):c.429A>G (p.Pro143=)	rs863224322
NM_000075.4(CDK4):c.42C>T (p.Val14=)	rs786203182
NM_000075.4(CDK4):c.435C>T (p.Asn145=)
NM_000075.4(CDK4):c.444G>A (p.Val148=)	rs1595110484
NM_000075.4(CDK4):c.444G>T (p.Val148=)	rs1595110484
NM_000075.4(CDK4):c.453T>C (p.Gly151=)	rs2140386487
NM_000075.4(CDK4):c.462C>G (p.Val154=)	rs1190412756
NM_000075.4(CDK4):c.465G>A (p.Lys155=)	rs2140386451
NM_000075.4(CDK4):c.471T>C (p.Ala157=)	rs2140386433
NM_000075.4(CDK4):c.483G>A (p.Leu161=)
NM_000075.4(CDK4):c.48C>G (p.Ala16=)	rs1311074831
NM_000075.4(CDK4):c.48C>T (p.Ala16=)
NM_000075.4(CDK4):c.513T>C (p.Leu171=)	rs748319770
NM_000075.4(CDK4):c.51T>C (p.Tyr17=)	rs2140388654
NM_000075.4(CDK4):c.522+10_522+13del
NM_000075.4(CDK4):c.522+15G>A
NM_000075.4(CDK4):c.522+16G>A
NM_000075.4(CDK4):c.522+17T>C	rs2140386235
NM_000075.4(CDK4):c.522+18A>G	rs1555201289
NM_000075.4(CDK4):c.522+20C>T	rs2140386226
NM_000075.4(CDK4):c.522+7A>G	rs1294665075
NM_000075.4(CDK4):c.522+8del
NM_000075.4(CDK4):c.522+9A>C	rs2140386258
NM_000075.4(CDK4):c.523-10T>A
NM_000075.4(CDK4):c.523-10T>C	rs1060504384
NM_000075.4(CDK4):c.523-13C>T
NM_000075.4(CDK4):c.523-15T>G
NM_000075.4(CDK4):c.523-17C>T
NM_000075.4(CDK4):c.523-19T>C
NM_000075.4(CDK4):c.523-20A>C
NM_000075.4(CDK4):c.523-20A>G
NM_000075.4(CDK4):c.523-20A>T	rs1595110299
NM_000075.4(CDK4):c.523-6C>T
NM_000075.4(CDK4):c.523-7C>T	rs2140385923
NM_000075.4(CDK4):c.523-8C>T
NM_000075.4(CDK4):c.531A>C (p.Thr177=)
NM_000075.4(CDK4):c.531A>G (p.Thr177=)	rs2140385880
NM_000075.4(CDK4):c.534C>G (p.Leu178=)	rs11547327
NM_000075.4(CDK4):c.549C>G (p.Pro183=)	rs778696237
NM_000075.4(CDK4):c.54G>A (p.Gly18=)
NM_000075.4(CDK4):c.552A>G (p.Glu184=)	rs2140385820
NM_000075.4(CDK4):c.561G>T (p.Leu187=)	rs864622342
NM_000075.4(CDK4):c.564G>A (p.Gln188=)	rs1057521685
NM_000075.4(CDK4):c.567C>T (p.Ser189=)	rs144422354
NM_000075.4(CDK4):c.570A>C (p.Thr190=)	rs1428628208
NM_000075.4(CDK4):c.573T>C (p.Tyr191=)	rs878853623
NM_000075.4(CDK4):c.576A>G (p.Ala192=)
NM_000075.4(CDK4):c.57A>G (p.Thr19=)
NM_000075.4(CDK4):c.588C>T (p.Asp196=)	rs2140385708
NM_000075.4(CDK4):c.600T>G (p.Val200=)	rs2140385676
NM_000075.4(CDK4):c.603C>G (p.Gly201=)	rs2140385667
NM_000075.4(CDK4):c.609C>A (p.Ile203=)	rs864622504
NM_000075.4(CDK4):c.612T>C (p.Phe204=)	rs1555201266
NM_000075.4(CDK4):c.630A>C (p.Arg210=)	rs1012477745
NM_000075.4(CDK4):c.630A>G (p.Arg210=)	rs1012477745
NM_000075.4(CDK4):c.632+10C>G	rs1367377055
NM_000075.4(CDK4):c.632+11C>A
NM_000075.4(CDK4):c.632+13C>T
NM_000075.4(CDK4):c.632+15T>A
NM_000075.4(CDK4):c.632+15_632+16del	rs1955225343
NM_000075.4(CDK4):c.632+19C>G	rs1027122710
NM_000075.4(CDK4):c.632+19C>T
NM_000075.4(CDK4):c.632+20T>A
NM_000075.4(CDK4):c.632+4T>A	rs1397979744
NM_000075.4(CDK4):c.632+5dup	rs1555201260
NM_000075.4(CDK4):c.632+7G>A	rs1955225535
NM_000075.4(CDK4):c.632+7del
NM_000075.4(CDK4):c.6T>A (p.Ala2=)	rs1057523632
NM_000075.4(CDK4):c.78C>T (p.Pro26=)	rs1057523487
NM_000075.4(CDK4):c.81C>T (p.His27=)
NM_000075.4(CDK4):c.90C>T (p.His30=)	rs2140388517
NM_000075.4(CDK4):c.93T>C (p.Phe31=)

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