ClinVar Miner

List of variants in gene combination CDK4, TSPAN31 reported as uncertain significance for Familial melanoma

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Total variants: 148
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HGVS dbSNP gnomAD frequency
NM_000075.4(CDK4):c.779T>A (p.Val260Glu) rs200215596 0.00013
NM_000075.4(CDK4):c.752C>A (p.Pro251His) rs143670820 0.00009
NM_000075.4(CDK4):c.886C>T (p.His296Tyr) rs2227954 0.00008
NM_000075.4(CDK4):c.863G>A (p.Arg288Gln) rs761577371 0.00004
NM_000075.4(CDK4):c.898G>A (p.Gly300Ser) rs879254241 0.00004
NM_000075.4(CDK4):c.905C>T (p.Pro302Leu) rs749477862 0.00004
NM_000075.4(CDK4):c.736C>T (p.Arg246Cys) rs370258992 0.00003
NM_000075.4(CDK4):c.640T>C (p.Phe214Leu) rs1555201131 0.00002
NM_000075.4(CDK4):c.661G>A (p.Asp221Asn) rs587778187 0.00002
NM_000075.4(CDK4):c.806C>T (p.Ala269Val) rs779161525 0.00002
NM_000075.4(CDK4):c.869T>C (p.Leu290Pro) rs768127244 0.00002
NM_000075.4(CDK4):c.681T>G (p.Phe227Leu) rs1193246679 0.00001
NM_000075.4(CDK4):c.689T>C (p.Ile230Thr) rs760435132 0.00001
NM_000075.4(CDK4):c.700C>T (p.Pro234Ser) rs1474793589 0.00001
NM_000075.4(CDK4):c.719G>A (p.Arg240Gln) rs531817742 0.00001
NM_000075.4(CDK4):c.737G>A (p.Arg246His) rs372604524 0.00001
NM_000075.4(CDK4):c.778G>T (p.Val260Leu) rs876660340 0.00001
NM_000075.4(CDK4):c.800C>T (p.Ser267Leu) rs1157646541 0.00001
NM_000075.4(CDK4):c.829A>G (p.Thr277Ala) rs767343306 0.00001
NM_000075.4(CDK4):c.838C>T (p.Pro280Ser) rs1299577422 0.00001
NM_000075.4(CDK4):c.841C>G (p.His281Asp) rs876659522 0.00001
NM_000075.4(CDK4):c.841C>T (p.His281Tyr) rs876659522 0.00001
NM_000075.4(CDK4):c.847C>T (p.Arg283Ter) rs1423966179 0.00001
NM_000075.4(CDK4):c.892G>A (p.Asp298Asn) rs1367425262 0.00001
NM_005981.5(TSPAN31):c.*1888G>A rs1060501928 0.00001
NM_005981.5(TSPAN31):c.*2036G>T rs1565805752 0.00001
NC_000012.11:g.(?_58140510)_(58145500_?)dup
NM_000075.4(CDK4):c.634C>G (p.Pro212Ala) rs1955206702
NM_000075.4(CDK4):c.634C>T (p.Pro212Ser)
NM_000075.4(CDK4):c.635C>T (p.Pro212Leu)
NM_000075.4(CDK4):c.642C>G (p.Phe214Leu)
NM_000075.4(CDK4):c.643T>C (p.Cys215Arg) rs1595109029
NM_000075.4(CDK4):c.644G>A (p.Cys215Tyr)
NM_000075.4(CDK4):c.644G>C (p.Cys215Ser) rs1955206509
NM_000075.4(CDK4):c.646G>A (p.Gly216Arg) rs1955206422
NM_000075.4(CDK4):c.647G>A (p.Gly216Glu) rs1955206366
NM_000075.4(CDK4):c.647G>C (p.Gly216Ala) rs1955206366
NM_000075.4(CDK4):c.647G>T (p.Gly216Val) rs1955206366
NM_000075.4(CDK4):c.652T>A (p.Ser218Thr) rs1955206277
NM_000075.4(CDK4):c.653C>A (p.Ser218Tyr) rs1955206224
NM_000075.4(CDK4):c.653C>G (p.Ser218Cys) rs1955206224
NM_000075.4(CDK4):c.653C>T (p.Ser218Phe)
NM_000075.4(CDK4):c.663C>G (p.Asp221Glu) rs1205343806
NM_000075.4(CDK4):c.664C>A (p.Gln222Lys)
NM_000075.4(CDK4):c.666G>C (p.Gln222His)
NM_000075.4(CDK4):c.670G>A (p.Gly224Ser) rs1555201123
NM_000075.4(CDK4):c.670G>C (p.Gly224Arg) rs1555201123
NM_000075.4(CDK4):c.680_681del (p.Ile226_Phe227insTer)
NM_000075.4(CDK4):c.684C>A (p.Asp228Glu) rs1555201112
NM_000075.4(CDK4):c.698C>T (p.Pro233Leu) rs1955202640
NM_000075.4(CDK4):c.700C>A (p.Pro234Thr) rs1474793589
NM_000075.4(CDK4):c.700C>G (p.Pro234Ala) rs1474793589
NM_000075.4(CDK4):c.701C>A (p.Pro234Gln)
NM_000075.4(CDK4):c.701C>T (p.Pro234Leu) rs771702415
NM_000075.4(CDK4):c.707A>G (p.Asp236Gly) rs1403703683
NM_000075.4(CDK4):c.710A>C (p.Asp237Ala) rs1555201108
NM_000075.4(CDK4):c.711C>G (p.Asp237Glu) rs2140383063
NM_000075.4(CDK4):c.716C>T (p.Pro239Leu)
NM_000075.4(CDK4):c.718C>G (p.Arg240Gly) rs786203856
NM_000075.4(CDK4):c.718C>T (p.Arg240Ter) rs786203856
NM_000075.4(CDK4):c.719G>C (p.Arg240Pro) rs531817742
NM_000075.4(CDK4):c.721G>C (p.Asp241His) rs755502728
NM_000075.4(CDK4):c.723T>G (p.Asp241Glu) rs1595108790
NM_000075.4(CDK4):c.724G>A (p.Val242Ile) rs876658903
NM_000075.4(CDK4):c.724G>T (p.Val242Leu) rs876658903
NM_000075.4(CDK4):c.725T>C (p.Val242Ala) rs747362286
NM_000075.4(CDK4):c.734C>T (p.Pro245Leu) rs1955201842
NM_000075.4(CDK4):c.736C>G (p.Arg246Gly) rs370258992
NM_000075.4(CDK4):c.739G>A (p.Gly247Arg) rs1555201101
NM_000075.4(CDK4):c.740G>A (p.Gly247Glu) rs921450127
NM_000075.4(CDK4):c.741dup (p.Ala248fs) rs2140382922
NM_000075.4(CDK4):c.743C>A (p.Ala248Asp) rs1595108770
NM_000075.4(CDK4):c.743C>G (p.Ala248Gly) rs1595108770
NM_000075.4(CDK4):c.748C>A (p.Pro250Thr) rs2140382889
NM_000075.4(CDK4):c.748C>G (p.Pro250Ala)
NM_000075.4(CDK4):c.749C>A (p.Pro250His) rs1955201479
NM_000075.4(CDK4):c.751C>T (p.Pro251Ser) rs2140382870
NM_000075.4(CDK4):c.752C>T (p.Pro251Leu) rs143670820
NM_000075.4(CDK4):c.753dup (p.Arg252fs) rs754187815
NM_000075.4(CDK4):c.757G>C (p.Gly253Arg) rs1955201304
NM_000075.4(CDK4):c.758G>A (p.Gly253Glu) rs1955201268
NM_000075.4(CDK4):c.760C>T (p.Pro254Ser) rs587779896
NM_000075.4(CDK4):c.767C>T (p.Pro256Leu) rs1234167326
NM_000075.4(CDK4):c.769G>A (p.Val257Met)
NM_000075.4(CDK4):c.770T>A (p.Val257Glu) rs1955200973
NM_000075.4(CDK4):c.775T>C (p.Ser259Pro)
NM_000075.4(CDK4):c.781G>T (p.Val261Leu)
NM_000075.4(CDK4):c.782T>C (p.Val261Ala) rs2140382749
NM_000075.4(CDK4):c.784C>T (p.Pro262Ser) rs1358878722
NM_000075.4(CDK4):c.787G>A (p.Glu263Lys)
NM_000075.4(CDK4):c.790A>G (p.Met264Val) rs1955200152
NM_000075.4(CDK4):c.790_795del (p.Met264_Glu265del) rs1595108668
NM_000075.4(CDK4):c.792G>A (p.Met264Ile) rs1955200108
NM_000075.4(CDK4):c.793G>A (p.Glu265Lys) rs769226197
NM_000075.4(CDK4):c.795G>C (p.Glu265Asp) rs747521511
NM_000075.4(CDK4):c.796G>A (p.Glu266Lys)
NM_000075.4(CDK4):c.796G>C (p.Glu266Gln) rs1193086731
NM_000075.4(CDK4):c.797A>G (p.Glu266Gly)
NM_000075.4(CDK4):c.799T>G (p.Ser267Ala)
NM_000075.4(CDK4):c.802G>A (p.Gly268Arg) rs2140382669
NM_000075.4(CDK4):c.805G>A (p.Ala269Thr) rs786202902
NM_000075.4(CDK4):c.805G>T (p.Ala269Ser)
NM_000075.4(CDK4):c.820G>C (p.Glu274Gln) rs2140381289
NM_000075.4(CDK4):c.821A>G (p.Glu274Gly) rs1565805274
NM_000075.4(CDK4):c.823A>C (p.Met275Leu)
NM_000075.4(CDK4):c.823A>T (p.Met275Leu) rs587781723
NM_000075.4(CDK4):c.824T>C (p.Met275Thr)
NM_000075.4(CDK4):c.833_834dup (p.Asn279fs) rs1955188005
NM_000075.4(CDK4):c.834T>G (p.Phe278Leu) rs115576923
NM_000075.4(CDK4):c.837C>G (p.Asn279Lys)
NM_000075.4(CDK4):c.839C>T (p.Pro280Leu) rs2140381227
NM_000075.4(CDK4):c.841C>A (p.His281Asn) rs876659522
NM_000075.4(CDK4):c.843C>G (p.His281Gln)
NM_000075.4(CDK4):c.845A>C (p.Lys282Thr) rs2140381204
NM_000075.4(CDK4):c.845A>G (p.Lys282Arg)
NM_000075.4(CDK4):c.848G>A (p.Arg283Gln) rs1595107806
NM_000075.4(CDK4):c.848G>C (p.Arg283Pro) rs1595107806
NM_000075.4(CDK4):c.850A>G (p.Ile284Val) rs730881671
NM_000075.4(CDK4):c.851T>C (p.Ile284Thr) rs751365131
NM_000075.4(CDK4):c.856G>T (p.Ala286Ser) rs1595107784
NM_000075.4(CDK4):c.857C>T (p.Ala286Val) rs2140381155
NM_000075.4(CDK4):c.862C>G (p.Arg288Gly) rs587779897
NM_000075.4(CDK4):c.862C>T (p.Arg288Ter) rs587779897
NM_000075.4(CDK4):c.863G>C (p.Arg288Pro) rs761577371
NM_000075.4(CDK4):c.868C>A (p.Leu290Met) rs1555201026
NM_000075.4(CDK4):c.871dup (p.Gln291fs) rs1955187145
NM_000075.4(CDK4):c.872A>C (p.Gln291Pro) rs1955187106
NM_000075.4(CDK4):c.875A>G (p.His292Arg)
NM_000075.4(CDK4):c.880T>C (p.Tyr294His)
NM_000075.4(CDK4):c.880_884del (p.Tyr294fs) rs2140381054
NM_000075.4(CDK4):c.880dup (p.Tyr294fs) rs1302362629
NM_000075.4(CDK4):c.881A>G (p.Tyr294Cys) rs1565805206
NM_000075.4(CDK4):c.887A>G (p.His296Arg) rs786202648
NM_000075.4(CDK4):c.889_903del (p.Lys297_Asn301del)
NM_000075.4(CDK4):c.890del (p.Lys297fs) rs2140381025
NM_000075.4(CDK4):c.893A>T (p.Asp298Val)
NM_000075.4(CDK4):c.895G>A (p.Glu299Lys) rs1161260206
NM_000075.4(CDK4):c.897A>T (p.Glu299Asp) rs1595107685
NM_000075.4(CDK4):c.899G>T (p.Gly300Val)
NM_000075.4(CDK4):c.901A>C (p.Asn301His) rs876660404
NM_000075.4(CDK4):c.902A>G (p.Asn301Ser) rs1955186510
NM_000075.4(CDK4):c.904C>G (p.Pro302Ala) rs2140380962
NM_000075.4(CDK4):c.907G>A (p.Glu303Lys) rs1253318687
NM_000075.4(CDK4):c.907G>T (p.Glu303Ter)
NM_000075.4(CDK4):c.910T>A (p.Ter304Arg) rs2140380940
NM_000075.4(CDK4):c.911G>T (p.Ter304Leu) rs1595107648
NM_005981.5(TSPAN31):c.*1230A>G rs786204045
NM_005981.5(TSPAN31):c.*1873C>T

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