ClinVar Miner

List of variants in gene combination CDK4, TSPAN31 reported as likely benign for Familial melanoma

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Gene type:
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Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_000075.4(CDK4):c.764G>A (p.Arg255His) rs144657355 0.00037
NM_000075.4(CDK4):c.684-4A>T rs370609910 0.00016
NM_000075.4(CDK4):c.771G>A (p.Val257=) rs377612647 0.00014
NM_000075.4(CDK4):c.834T>C (p.Phe278=) rs115576923 0.00013
NM_000075.4(CDK4):c.813G>A (p.Leu271=) rs1487727732 0.00011
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu) rs201617914 0.00007
NM_000075.4(CDK4):c.702A>C (p.Pro234=) rs368081942 0.00006
NM_000075.4(CDK4):c.753C>G (p.Pro251=) rs757333818 0.00003
NM_000075.4(CDK4):c.870G>C (p.Leu290=) rs1299338481 0.00003
NM_000075.4(CDK4):c.683+7G>A rs565689797 0.00002
NM_000075.4(CDK4):c.763C>T (p.Arg255Cys) rs587778188 0.00002
NM_000075.4(CDK4):c.819+11T>C rs188641164 0.00002
NM_000075.4(CDK4):c.906G>A (p.Pro302=) rs375309124 0.00002
NM_000075.4(CDK4):c.645T>C (p.Cys215=) rs751861614 0.00001
NM_000075.4(CDK4):c.654T>C (p.Ser218=) rs766518915 0.00001
NM_000075.4(CDK4):c.660C>T (p.Ala220=) rs773490152 0.00001
NM_000075.4(CDK4):c.663C>T (p.Asp221=) rs1205343806 0.00001
NM_000075.4(CDK4):c.683+11A>G rs1955205252 0.00001
NM_000075.4(CDK4):c.684-10dup rs757684130 0.00001
NM_000075.4(CDK4):c.684-14C>T rs750471090 0.00001
NM_000075.4(CDK4):c.684-5C>T rs765361338 0.00001
NM_000075.4(CDK4):c.684-9C>A rs1565805752 0.00001
NM_000075.4(CDK4):c.777G>A (p.Ser259=) rs3211622 0.00001
NM_000075.4(CDK4):c.795G>A (p.Glu265=) rs747521511 0.00001
NM_000075.4(CDK4):c.798G>A (p.Glu266=) rs780522588 0.00001
NM_000075.4(CDK4):c.801G>A (p.Ser267=) rs201744062 0.00001
NM_000075.4(CDK4):c.843C>T (p.His281=) rs750061873 0.00001
NM_000075.4(CDK4):c.846G>A (p.Lys282=) rs1248502310 0.00001
NM_000075.4(CDK4):c.864A>T (p.Arg288=) rs1369349270 0.00001
NM_000075.4(CDK4):c.882T>C (p.Tyr294=) rs1307304019 0.00001
NM_000075.4(CDK4):c.633-10C>G rs1555201136
NM_000075.4(CDK4):c.633-10C>T
NM_000075.4(CDK4):c.633-11T>A
NM_000075.4(CDK4):c.633-13C>T
NM_000075.4(CDK4):c.633-14C>G
NM_000075.4(CDK4):c.633-14C>T
NM_000075.4(CDK4):c.633-18T>C rs2140384054
NM_000075.4(CDK4):c.633-20T>A
NM_000075.4(CDK4):c.633-20T>C
NM_000075.4(CDK4):c.633-6C>A
NM_000075.4(CDK4):c.633-6C>T rs2140384011
NM_000075.4(CDK4):c.633-8C>A rs536249985
NM_000075.4(CDK4):c.633-8C>T rs536249985
NM_000075.4(CDK4):c.636T>A (p.Pro212=)
NM_000075.4(CDK4):c.639C>A (p.Leu213=) rs2140383965
NM_000075.4(CDK4):c.639C>T (p.Leu213=) rs2140383965
NM_000075.4(CDK4):c.648A>C (p.Gly216=) rs2140383924
NM_000075.4(CDK4):c.651C>T (p.Asn217=) rs876659462
NM_000075.4(CDK4):c.657A>G (p.Glu219=) rs763093891
NM_000075.4(CDK4):c.666G>A (p.Gln222=) rs1324120646
NM_000075.4(CDK4):c.667T>C (p.Leu223=) rs2140383860
NM_000075.4(CDK4):c.681T>C (p.Phe227=) rs1193246679
NM_000075.4(CDK4):c.683+10C>A rs1455681193
NM_000075.4(CDK4):c.683+12A>G
NM_000075.4(CDK4):c.683+13C>T rs1194182388
NM_000075.4(CDK4):c.683+15T>C rs2140383719
NM_000075.4(CDK4):c.683+15T>G
NM_000075.4(CDK4):c.683+16G>A rs2140383715
NM_000075.4(CDK4):c.683+18G>C
NM_000075.4(CDK4):c.683+8A>C
NM_000075.4(CDK4):c.683+8A>T rs1446831422
NM_000075.4(CDK4):c.683+8del rs2140383751
NM_000075.4(CDK4):c.683+9C>T
NM_000075.4(CDK4):c.684-11G>A
NM_000075.4(CDK4):c.684-12T>C
NM_000075.4(CDK4):c.684-13C>A rs2140383245
NM_000075.4(CDK4):c.684-4A>G rs370609910
NM_000075.4(CDK4):c.684-5C>A
NM_000075.4(CDK4):c.684-5C>G rs765361338
NM_000075.4(CDK4):c.684-5del rs2140383210
NM_000075.4(CDK4):c.684-6C>T
NM_000075.4(CDK4):c.684-7C>T rs1955203177
NM_000075.4(CDK4):c.684-8C>T rs2140383220
NM_000075.4(CDK4):c.684-9C>T rs1565805752
NM_000075.4(CDK4):c.690T>C (p.Ile230=) rs886049714
NM_000075.4(CDK4):c.694C>T (p.Leu232=) rs2140383137
NM_000075.4(CDK4):c.696G>T (p.Leu232=) rs2227953
NM_000075.4(CDK4):c.699T>C (p.Pro233=)
NM_000075.4(CDK4):c.705G>A (p.Glu235=) rs374223296
NM_000075.4(CDK4):c.708T>C (p.Asp236=) rs2140383078
NM_000075.4(CDK4):c.711C>T (p.Asp237=) rs2140383063
NM_000075.4(CDK4):c.717T>C (p.Pro239=)
NM_000075.4(CDK4):c.718C>A (p.Arg240=) rs786203856
NM_000075.4(CDK4):c.720A>G (p.Arg240=) rs1439384781
NM_000075.4(CDK4):c.723T>C (p.Asp241=) rs1595108790
NM_000075.4(CDK4):c.729C>T (p.Ser243=)
NM_000075.4(CDK4):c.730C>T (p.Leu244=) rs2140382971
NM_000075.4(CDK4):c.732G>A (p.Leu244=)
NM_000075.4(CDK4):c.732G>T (p.Leu244=) rs1955201874
NM_000075.4(CDK4):c.738T>C (p.Arg246=) rs2140382933
NM_000075.4(CDK4):c.741A>G (p.Gly247=) rs1595108773
NM_000075.4(CDK4):c.744C>G (p.Ala248=) rs1595108768
NM_000075.4(CDK4):c.744C>T (p.Ala248=) rs1595108768
NM_000075.4(CDK4):c.747T>C (p.Phe249=) rs886049713
NM_000075.4(CDK4):c.752C>G (p.Pro251Arg) rs143670820
NM_000075.4(CDK4):c.753C>A (p.Pro251=) rs757333818
NM_000075.4(CDK4):c.753C>T (p.Pro251=) rs757333818
NM_000075.4(CDK4):c.759G>C (p.Gly253=)
NM_000075.4(CDK4):c.762C>T (p.Pro254=) rs753908111
NM_000075.4(CDK4):c.765C>T (p.Arg255=)
NM_000075.4(CDK4):c.768A>C (p.Pro256=)
NM_000075.4(CDK4):c.777G>C (p.Ser259=) rs3211622
NM_000075.4(CDK4):c.780G>A (p.Val260=) rs1955200396
NM_000075.4(CDK4):c.780G>C (p.Val260=)
NM_000075.4(CDK4):c.783A>T (p.Val261=)
NM_000075.4(CDK4):c.786T>C (p.Pro262=)
NM_000075.4(CDK4):c.801G>C (p.Ser267=) rs201744062
NM_000075.4(CDK4):c.801G>T (p.Ser267=)
NM_000075.4(CDK4):c.804A>C (p.Gly268=) rs2140382663
NM_000075.4(CDK4):c.819+13G>C
NM_000075.4(CDK4):c.819+16G>A rs2140382521
NM_000075.4(CDK4):c.819+16G>T
NM_000075.4(CDK4):c.819+17T>G
NM_000075.4(CDK4):c.819+18G>A rs2140382516
NM_000075.4(CDK4):c.819+7G>A
NM_000075.4(CDK4):c.819+7del rs1217545832
NM_000075.4(CDK4):c.819+8A>T
NM_000075.4(CDK4):c.822A>G (p.Glu274=)
NM_000075.4(CDK4):c.826C>T (p.Leu276=) rs2140381274
NM_000075.4(CDK4):c.837C>T (p.Asn279=)
NM_000075.4(CDK4):c.840A>G (p.Pro280=) rs2140381222
NM_000075.4(CDK4):c.849A>G (p.Arg283=) rs1595107798
NM_000075.4(CDK4):c.855T>G (p.Ser285=)
NM_000075.4(CDK4):c.858C>T (p.Ala286=)
NM_000075.4(CDK4):c.868C>T (p.Leu290=) rs1555201026
NM_000075.4(CDK4):c.870G>A (p.Leu290=)
NM_000075.4(CDK4):c.870G>T (p.Leu290=) rs1299338481
NM_000075.4(CDK4):c.885A>G (p.Leu295=) rs2140381049
NM_000075.4(CDK4):c.906G>C (p.Pro302=) rs375309124

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