ClinVar Miner

List of variants in gene SLC45A2 studied for disorder of melanin metabolism

Included ClinVar conditions (48):
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Gene type:
ClinVar version:
Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_016180.5(SLC45A2):c.987A>G (p.Thr329=) rs2287949 0.95123
NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) rs16891982 0.67617
NM_016180.5(SLC45A2):c.814G>A (p.Glu272Lys) rs26722 0.05621
NM_016180.5(SLC45A2):c.1032+9C>T rs113928135 0.01096
NM_016180.5(SLC45A2):c.*24A>C rs45552240 0.00090
NM_016180.5(SLC45A2):c.1352G>A (p.Arg451His) rs142680641 0.00053
NM_016180.5(SLC45A2):c.799G>A (p.Glu267Lys) rs140005143 0.00037
NM_016180.5(SLC45A2):c.1518C>T (p.Val506=) rs150473213 0.00034
NM_016180.5(SLC45A2):c.1089C>T (p.Tyr363=) rs148156477 0.00033
NM_016180.5(SLC45A2):c.-7A>G rs371592288 0.00029
NM_016180.5(SLC45A2):c.1516G>A (p.Val506Ile) rs138338197 0.00026
NM_016180.5(SLC45A2):c.1157-10C>T rs371152353 0.00022
NM_016180.5(SLC45A2):c.365A>G (p.Asn122Ser) rs145379710 0.00021
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys) rs146802593 0.00019
NM_016180.5(SLC45A2):c.264del (p.Gly89fs) rs775387808 0.00011
NM_016180.5(SLC45A2):c.1533G>A (p.Ala511=) rs373174326 0.00009
NM_016180.5(SLC45A2):c.*1G>A rs3822467 0.00008
NM_016180.5(SLC45A2):c.1351C>T (p.Arg451Cys) rs142175557 0.00007
NM_016180.5(SLC45A2):c.602A>G (p.Asp201Gly) rs750190731 0.00007
NM_016180.5(SLC45A2):c.888+14A>G rs188368977 0.00007
NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro) rs121912619 0.00006
NM_016180.5(SLC45A2):c.264C>G (p.Val88=) rs149213379 0.00006
NM_016180.5(SLC45A2):c.1090G>A (p.Glu364Lys) rs201140684 0.00005
NM_016180.5(SLC45A2):c.310C>T (p.Pro104Ser) rs372381365 0.00005
NM_016180.5(SLC45A2):c.627A>G (p.Arg209=) rs755956613 0.00005
NM_016180.5(SLC45A2):c.1156+7C>T rs767910207 0.00004
NM_016180.5(SLC45A2):c.1256C>T (p.Pro419Leu) rs530738094 0.00004
NM_016180.5(SLC45A2):c.1454T>C (p.Leu485Pro) rs749544685 0.00004
NM_016180.5(SLC45A2):c.301C>T (p.Arg101Cys) rs779436059 0.00004
NM_016180.5(SLC45A2):c.528G>A (p.Lys176=) rs375319565 0.00004
NM_016180.5(SLC45A2):c.1042C>T (p.Arg348Cys) rs372465070 0.00003
NM_016180.5(SLC45A2):c.1156+1G>C rs752501574 0.00003
NM_016180.5(SLC45A2):c.1208C>T (p.Thr403Met) rs141286272 0.00003
NM_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu) rs769448704 0.00003
NM_016180.5(SLC45A2):c.1532C>T (p.Ala511Val) rs748872789 0.00003
NM_016180.5(SLC45A2):c.305G>A (p.Arg102Gln) rs752370234 0.00003
NM_016180.5(SLC45A2):c.802dup (p.Tyr268fs) rs753041550 0.00003
NM_016180.5(SLC45A2):c.957C>A (p.Tyr319Ter) rs200122644 0.00003
NM_016180.5(SLC45A2):c.1233G>A (p.Gly411=) rs758782256 0.00002
NM_016180.5(SLC45A2):c.1251C>G (p.Leu417=) rs533032986 0.00002
NM_016180.5(SLC45A2):c.304C>T (p.Arg102Trp) rs760331451 0.00002
NM_016180.5(SLC45A2):c.432C>T (p.Val144=) rs200477301 0.00002
NM_016180.5(SLC45A2):c.1032G>T (p.Gln344His) rs794727645 0.00001
NM_016180.5(SLC45A2):c.1102G>A (p.Glu368Lys) rs1307137184 0.00001
NM_016180.5(SLC45A2):c.1235C>T (p.Thr412Met) rs149980670 0.00001
NM_016180.5(SLC45A2):c.1247G>A (p.Gly416Glu) rs773980173 0.00001
NM_016180.5(SLC45A2):c.1280T>C (p.Leu427Pro) rs759043037 0.00001
NM_016180.5(SLC45A2):c.1457C>T (p.Ala486Val) rs121912620 0.00001
NM_016180.5(SLC45A2):c.1567G>A (p.Ala523Thr) rs371334000 0.00001
NM_016180.5(SLC45A2):c.1570C>T (p.Leu524Phe) rs565278457 0.00001
NM_016180.5(SLC45A2):c.161C>T (p.Ala54Val) rs1753182397 0.00001
NM_016180.5(SLC45A2):c.274A>G (p.Ser92Gly) rs755311638 0.00001
NM_016180.5(SLC45A2):c.277G>A (p.Asp93Asn) rs751978811 0.00001
NM_016180.5(SLC45A2):c.372T>A (p.Ala124=) rs886060519 0.00001
NM_016180.5(SLC45A2):c.533_534dup (p.Gly179fs) rs757344228 0.00001
NM_016180.5(SLC45A2):c.53A>T (p.Asp18Val) rs768464863 0.00001
NM_016180.5(SLC45A2):c.563G>T (p.Gly188Val) rs1177355814 0.00001
NM_016180.5(SLC45A2):c.578T>G (p.Leu193Arg) rs797045970 0.00001
NM_016180.5(SLC45A2):c.793A>T (p.Met265Leu) rs754221547 0.00001
NM_016180.4(SLC45A2):c.*29C>G rs886060518
NM_016180.4(SLC45A2):c.[1454T>C];[264delC]
NM_016180.5(SLC45A2):c.-12C>T rs1356089204
NM_016180.5(SLC45A2):c.-30G>T rs1753197383
NM_016180.5(SLC45A2):c.1036G>T (p.Val346Leu)
NM_016180.5(SLC45A2):c.1072_1081del (p.Thr358fs)
NM_016180.5(SLC45A2):c.1076_1077del (p.Glu359fs) rs753485165
NM_016180.5(SLC45A2):c.1121del (p.Leu374fs) rs730880271
NM_016180.5(SLC45A2):c.113A>G (p.His38Arg)
NM_016180.5(SLC45A2):c.1157-765C>G
NM_016180.5(SLC45A2):c.1166_1167del (p.Lys389fs) rs896495198
NM_016180.5(SLC45A2):c.1182C>G (p.Tyr394Ter)
NM_016180.5(SLC45A2):c.1194G>C (p.Lys398Asn)
NM_016180.5(SLC45A2):c.1266C>G (p.Tyr422Ter)
NM_016180.5(SLC45A2):c.1273del (p.Leu425fs) rs759411189
NM_016180.5(SLC45A2):c.1304C>A (p.Ser435Tyr)
NM_016180.5(SLC45A2):c.1316A>C (p.Tyr439Ser)
NM_016180.5(SLC45A2):c.1318A>G (p.Thr440Ala)
NM_016180.5(SLC45A2):c.1368+1G>T rs1294369944
NM_016180.5(SLC45A2):c.141C>T (p.Phe47=) rs1753184180
NM_016180.5(SLC45A2):c.1435del (p.Leu479fs)
NM_016180.5(SLC45A2):c.1456G>A (p.Ala486Thr)
NM_016180.5(SLC45A2):c.149C>A (p.Ala50Glu) rs1579564717
NM_016180.5(SLC45A2):c.1519G>C (p.Val507Leu) rs3733808
NM_016180.5(SLC45A2):c.1534_1539dup (p.Ser512_Ala513dup) rs752069774
NM_016180.5(SLC45A2):c.1567_1574dup (p.Phe525fs) rs780732891
NM_016180.5(SLC45A2):c.163dup (p.Tyr55fs) rs1057518722
NM_016180.5(SLC45A2):c.178C>T (p.Leu60=) rs1396003152
NM_016180.5(SLC45A2):c.187G>T (p.Val63Leu) rs779099623
NM_016180.5(SLC45A2):c.191G>T (p.Gly64Val) rs757331566
NM_016180.5(SLC45A2):c.208T>C (p.Tyr70His) rs2112021025
NM_016180.5(SLC45A2):c.210C>A (p.Tyr70Ter) rs562624441
NM_016180.5(SLC45A2):c.232C>A (p.Pro78Thr) rs886060520
NM_016180.5(SLC45A2):c.265G>A (p.Gly89Arg) rs980618644
NM_016180.5(SLC45A2):c.287G>C (p.Arg96Pro) rs753327799
NM_016180.5(SLC45A2):c.2T>C (p.Met1Thr)
NM_016180.5(SLC45A2):c.301C>G (p.Arg101Gly)
NM_016180.5(SLC45A2):c.324C>G (p.Thr108=) rs1753169862
NM_016180.5(SLC45A2):c.339_340insAC (p.Leu114fs)
NM_016180.5(SLC45A2):c.385+1G>A
NM_016180.5(SLC45A2):c.386-1G>A rs1753106609
NM_016180.5(SLC45A2):c.386-2A>G
NM_016180.5(SLC45A2):c.469G>A (p.Asp157Asn) rs121912621
NM_016180.5(SLC45A2):c.478G>C (p.Asp160His) rs760780597
NM_016180.5(SLC45A2):c.529_531del (p.Glu177del) rs779024478
NM_016180.5(SLC45A2):c.563-1G>A rs730880270
NM_016180.5(SLC45A2):c.656TCT[2] (p.Phe221del) rs387906318
NM_016180.5(SLC45A2):c.773C>T (p.Pro258Leu) rs1752520465
NM_016180.5(SLC45A2):c.816del (p.Val274fs)
NM_016180.5(SLC45A2):c.834C>G (p.Tyr278Ter) rs116887602
NM_016180.5(SLC45A2):c.834C>T (p.Tyr278=) rs116887602
NM_016180.5(SLC45A2):c.875del (p.Asn292fs)
NM_016180.5(SLC45A2):c.941C>T (p.Pro314Leu)
NM_016180.5(SLC45A2):c.986C>T (p.Thr329Ile) rs140158799
NM_016180.5(SLC45A2):c.986del (p.Thr329fs) rs387906317

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