ClinVar Miner

List of variants studied for Oculocutaneous albinism type 4 by Illumina Laboratory Services, Illumina

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Total variants: 44
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HGVS dbSNP gnomAD frequency
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.606G>C (p.Trp202Cys) rs146802593 0.00019
NM_016180.5(SLC45A2):c.1090G>A (p.Glu364Lys) rs201140684 0.00013
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.602A>G (p.Asp201Gly) rs750190731 0.00007
NM_016180.5(SLC45A2):c.888+14A>G rs188368977 0.00007
NM_016180.5(SLC45A2):c.1351C>T (p.Arg451Cys) rs142175557 0.00006
NM_016180.5(SLC45A2):c.264C>G (p.Val88=) rs149213379 0.00006
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.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.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.161C>T (p.Ala54Val) rs1753182397 0.00001
NM_016180.5(SLC45A2):c.372T>A (p.Ala124=) rs886060519 0.00001
NM_016180.5(SLC45A2):c.-12C>T rs1356089204
NM_016180.5(SLC45A2):c.-30G>T rs1753197383
NM_016180.5(SLC45A2):c.1266C>G (p.Tyr422Ter)
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.232C>A (p.Pro78Thr) rs886060520
NM_016180.5(SLC45A2):c.287G>C (p.Arg96Pro) rs753327799
NM_016180.5(SLC45A2):c.324C>G (p.Thr108=) rs1753169862
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.986C>T (p.Thr329Ile) rs140158799

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