ClinVar Miner

List of variants in gene SLC45A2 reported as uncertain significance for hereditary skin disorder

Included ClinVar conditions (790):
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Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
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.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.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.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.1208C>T (p.Thr403Met) rs141286272 0.00003
NM_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu) rs769448704 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.432C>T (p.Val144=) rs200477301 0.00002
NM_016180.5(SLC45A2):c.1235C>T (p.Thr412Met) rs149980670 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.372T>A (p.Ala124=) rs886060519 0.00001
NM_016180.5(SLC45A2):c.53A>T (p.Asp18Val) rs768464863 0.00001
NM_016180.5(SLC45A2):c.793A>T (p.Met265Leu) rs754221547 0.00001
NM_016180.4(SLC45A2):c.*29C>G rs886060518
NM_016180.5(SLC45A2):c.-12C>T rs1356089204
NM_016180.5(SLC45A2):c.-30G>T rs1753197383
NM_016180.5(SLC45A2):c.1076_1077del (p.Glu359fs) rs753485165
NM_016180.5(SLC45A2):c.1194G>C (p.Lys398Asn)
NM_016180.5(SLC45A2):c.1304C>A (p.Ser435Tyr)
NM_016180.5(SLC45A2):c.1316A>C (p.Tyr439Ser)
NM_016180.5(SLC45A2):c.141C>T (p.Phe47=) rs1753184180
NM_016180.5(SLC45A2):c.1519G>C (p.Val507Leu) rs3733808
NM_016180.5(SLC45A2):c.1567_1574dup (p.Phe525fs) rs780732891
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.232C>A (p.Pro78Thr) rs886060520
NM_016180.5(SLC45A2):c.287G>C (p.Arg96Pro) rs753327799
NM_016180.5(SLC45A2):c.301C>G (p.Arg101Gly)
NM_016180.5(SLC45A2):c.324C>G (p.Thr108=) rs1753169862
NM_016180.5(SLC45A2):c.529_531del (p.Glu177del) rs779024478
NM_016180.5(SLC45A2):c.773C>T (p.Pro258Leu) rs1752520465
NM_016180.5(SLC45A2):c.834C>T (p.Tyr278=) rs116887602
NM_016180.5(SLC45A2):c.941C>T (p.Pro314Leu)
NM_016180.5(SLC45A2):c.986C>T (p.Thr329Ile) rs140158799

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