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: 121
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HGVS dbSNP gnomAD frequency
NM_000075.4(CDK4):c.764G>A (p.Arg255His) rs144657355 0.00037
NM_005981.5(TSPAN31):c.*2031T>A 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.763C>T (p.Arg255Cys) rs587778188 0.00002
NM_000075.4(CDK4):c.906G>A (p.Pro302=) rs375309124 0.00002
NM_005981.5(TSPAN31):c.*1881A>G rs188641164 0.00002
NM_005981.5(TSPAN31):c.*2157C>T rs565689797 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.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_005981.5(TSPAN31):c.*2032G>A rs765361338 0.00001
NM_005981.5(TSPAN31):c.*2037dup rs757684130 0.00001
NM_005981.5(TSPAN31):c.*2041G>A rs750471090 0.00001
NM_005981.5(TSPAN31):c.*2153T>C rs1955205252 0.00001
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.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.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.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.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
NM_005981.5(TSPAN31):c.*1874C>T rs2140382516
NM_005981.5(TSPAN31):c.*1875A>C
NM_005981.5(TSPAN31):c.*1876C>A
NM_005981.5(TSPAN31):c.*1876C>T rs2140382521
NM_005981.5(TSPAN31):c.*1879C>G
NM_005981.5(TSPAN31):c.*1884T>A
NM_005981.5(TSPAN31):c.*1885C>T
NM_005981.5(TSPAN31):c.*1886del rs1217545832
NM_005981.5(TSPAN31):c.*2031T>C rs370609910
NM_005981.5(TSPAN31):c.*2032G>C rs765361338
NM_005981.5(TSPAN31):c.*2032G>T
NM_005981.5(TSPAN31):c.*2033G>A
NM_005981.5(TSPAN31):c.*2034G>A rs1955203177
NM_005981.5(TSPAN31):c.*2035G>A rs2140383220
NM_005981.5(TSPAN31):c.*2036G>A rs1565805752
NM_005981.5(TSPAN31):c.*2036del rs2140383210
NM_005981.5(TSPAN31):c.*2038C>T
NM_005981.5(TSPAN31):c.*2039A>G
NM_005981.5(TSPAN31):c.*2040G>T rs2140383245
NM_005981.5(TSPAN31):c.*2146C>G
NM_005981.5(TSPAN31):c.*2148C>T rs2140383715
NM_005981.5(TSPAN31):c.*2149A>C
NM_005981.5(TSPAN31):c.*2149A>G rs2140383719
NM_005981.5(TSPAN31):c.*2151G>A rs1194182388
NM_005981.5(TSPAN31):c.*2152T>C
NM_005981.5(TSPAN31):c.*2154G>T rs1455681193
NM_005981.5(TSPAN31):c.*2155G>A
NM_005981.5(TSPAN31):c.*2156T>A rs1446831422
NM_005981.5(TSPAN31):c.*2156T>G
NM_005981.5(TSPAN31):c.*2156del rs2140383751
NM_005981.5(TSPAN31):c.*2220G>A rs2140384011
NM_005981.5(TSPAN31):c.*2220G>T
NM_005981.5(TSPAN31):c.*2222G>A rs536249985
NM_005981.5(TSPAN31):c.*2222G>T rs536249985
NM_005981.5(TSPAN31):c.*2224G>A
NM_005981.5(TSPAN31):c.*2224G>C rs1555201136
NM_005981.5(TSPAN31):c.*2225A>T
NM_005981.5(TSPAN31):c.*2232A>G rs2140384054
NM_005981.5(TSPAN31):c.*2234A>G
NM_005981.5(TSPAN31):c.*2234A>T

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