ClinVar Miner

List of variants in gene SLC24A1 studied for blindness (disorder)

Included ClinVar conditions (48):
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Gene type:
ClinVar version:
Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_004727.3(SLC24A1):c.109A>T (p.Thr37Ser) rs3743171 0.19289
NM_004727.3(SLC24A1):c.*1618A>G rs62014380 0.06922
NM_004727.3(SLC24A1):c.*732T>G rs62014379 0.06512
NM_004727.3(SLC24A1):c.937T>G (p.Leu313Val) rs35571449 0.06350
NM_004727.3(SLC24A1):c.*718C>A rs12148277 0.03721
NM_004727.3(SLC24A1):c.*766G>A rs140766380 0.03114
NM_004727.3(SLC24A1):c.1822G>A (p.Val608Ile) rs35984752 0.01683
NM_004727.3(SLC24A1):c.931G>C (p.Val311Leu) rs34363823 0.01175
NM_004727.3(SLC24A1):c.*1199T>C rs114414983 0.01090
NM_004727.3(SLC24A1):c.1488C>T (p.Gly496=) rs35366838 0.00946
NM_004727.3(SLC24A1):c.*1931C>T rs75577183 0.00760
NM_004727.3(SLC24A1):c.-164C>T rs79327611 0.00743
NM_004727.3(SLC24A1):c.-113C>T rs76680467 0.00702
NM_004727.3(SLC24A1):c.2594A>G (p.Glu865Gly) rs142249570 0.00691
NM_004727.3(SLC24A1):c.*778C>T rs150126578 0.00629
NM_004727.3(SLC24A1):c.*1504C>T rs116886540 0.00464
NM_004727.3(SLC24A1):c.*37A>C rs73470085 0.00333
NM_004727.3(SLC24A1):c.1859C>T (p.Ala620Val) rs35398714 0.00276
NM_004727.3(SLC24A1):c.-275G>A rs115370128 0.00275
NM_004727.3(SLC24A1):c.2764T>C (p.Trp922Arg) rs146253044 0.00270
NM_004727.3(SLC24A1):c.2778C>T (p.Pro926=) rs117685425 0.00190
NM_004727.3(SLC24A1):c.*721G>A rs549899114 0.00160
NM_004727.3(SLC24A1):c.2171C>T (p.Thr724Met) rs191146484 0.00125
NM_004727.3(SLC24A1):c.-182T>C rs190488986 0.00110
NM_004727.3(SLC24A1):c.1653C>T (p.Leu551=) rs181942192 0.00072
NM_004727.3(SLC24A1):c.*1699T>C rs772057151 0.00065
NM_004727.3(SLC24A1):c.*2041C>T rs138458275 0.00050
NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val) rs201943537 0.00045
NM_004727.3(SLC24A1):c.*40C>A rs371028086 0.00042
NM_004727.3(SLC24A1):c.3058G>A (p.Val1020Ile) rs375878760 0.00041
NM_004727.3(SLC24A1):c.803T>C (p.Val268Ala) rs202245263 0.00036
NM_004727.3(SLC24A1):c.*1628C>A rs983795023 0.00033
NM_004727.3(SLC24A1):c.2577C>T (p.Ser859=) rs371059164 0.00029
NM_004727.3(SLC24A1):c.1891-6T>C rs372058206 0.00027
NM_004727.3(SLC24A1):c.*809G>A rs755760960 0.00024
NM_004727.3(SLC24A1):c.754_755del (p.Met252fs) rs777989874 0.00016
NM_004727.3(SLC24A1):c.1542C>T (p.Ile514=) rs372658740 0.00014
NM_004727.3(SLC24A1):c.309A>G (p.Thr103=) rs375495390 0.00014
NM_004727.3(SLC24A1):c.-73A>G rs886051346 0.00013
NM_004727.3(SLC24A1):c.1374C>T (p.His458=) rs370043190 0.00013
NM_004727.3(SLC24A1):c.1925A>G (p.Gln642Arg) rs376244274 0.00011
NM_004727.3(SLC24A1):c.2751C>T (p.Ile917=) rs368057501 0.00011
NM_004727.3(SLC24A1):c.*2083C>T rs886051360 0.00010
NM_004727.3(SLC24A1):c.-161G>A rs886051345 0.00010
NM_004727.3(SLC24A1):c.235C>G (p.Pro79Ala) rs779538393 0.00009
NM_004727.3(SLC24A1):c.47G>A (p.Arg16Gln) rs201549936 0.00009
NM_004727.3(SLC24A1):c.1910C>T (p.Ala637Val) rs375420645 0.00008
NM_004727.3(SLC24A1):c.776T>C (p.Phe259Ser) rs370617242 0.00008
NM_004727.3(SLC24A1):c.1890+6G>A rs375850066 0.00007
NM_004727.3(SLC24A1):c.1945-14C>G rs761704353 0.00007
NM_004727.3(SLC24A1):c.2884-9G>A rs374590721 0.00007
NM_004727.3(SLC24A1):c.175C>G (p.Pro59Ala) rs533092441 0.00006
NM_004727.3(SLC24A1):c.1818C>T (p.Ile606=) rs368241269 0.00006
NM_004727.3(SLC24A1):c.2884-15G>A rs371022531 0.00006
NM_004727.3(SLC24A1):c.3021G>A (p.Val1007=) rs201199381 0.00006
NM_004727.3(SLC24A1):c.76C>T (p.Leu26Phe) rs755508009 0.00006
NM_004727.3(SLC24A1):c.1911G>A (p.Ala637=) rs372995067 0.00005
NM_004727.3(SLC24A1):c.*1608C>T rs886051358 0.00004
NM_004727.3(SLC24A1):c.1963C>T (p.Arg655Ter) rs201452975 0.00004
NM_004727.3(SLC24A1):c.2166G>A (p.Ala722=) rs565350549 0.00004
NM_004727.3(SLC24A1):c.2349T>C (p.Gly783=) rs886051351 0.00004
NM_004727.3(SLC24A1):c.2917A>G (p.Met973Val) rs201810804 0.00004
NM_004727.3(SLC24A1):c.*1474A>G rs886051357 0.00003
NM_004727.3(SLC24A1):c.*2027G>A rs886051359 0.00003
NM_004727.3(SLC24A1):c.2782G>A (p.Val928Ile) rs536096021 0.00003
NM_004727.3(SLC24A1):c.2794-11C>A rs879718216 0.00003
NM_004727.3(SLC24A1):c.980C>T (p.Thr327Ile) rs746176031 0.00003
NM_004727.3(SLC24A1):c.*295G>A rs886051353 0.00002
NM_004727.3(SLC24A1):c.1287C>T (p.Pro429=) rs769956786 0.00002
NM_004727.3(SLC24A1):c.2226C>T (p.Gly742=) rs372137068 0.00002
NM_004727.3(SLC24A1):c.2533G>A (p.Glu845Lys) rs532808985 0.00002
NM_004727.3(SLC24A1):c.3051-9A>G rs774208027 0.00002
NM_004727.3(SLC24A1):c.3179C>T (p.Ala1060Val) rs760183851 0.00002
NM_004727.3(SLC24A1):c.*1363G>A rs886051356 0.00001
NM_004727.3(SLC24A1):c.*1616A>T rs1433961660 0.00001
NM_004727.3(SLC24A1):c.*203G>A rs1022815934 0.00001
NM_004727.3(SLC24A1):c.*2040T>C rs927721327 0.00001
NM_004727.3(SLC24A1):c.-127+10G>A rs562775135 0.00001
NM_004727.3(SLC24A1):c.-49T>C rs777522531 0.00001
NM_004727.3(SLC24A1):c.134G>A (p.Arg45Gln) rs886051348 0.00001
NM_004727.3(SLC24A1):c.1441C>G (p.Leu481Val) rs755476531 0.00001
NM_004727.3(SLC24A1):c.1892C>T (p.Pro631Leu) rs771446643 0.00001
NM_004727.3(SLC24A1):c.2401G>T (p.Glu801Ter) rs1410075831 0.00001
NM_004727.3(SLC24A1):c.2884-1G>C rs766014688 0.00001
NM_004727.3(SLC24A1):c.3206T>A (p.Ile1069Asn) rs771727416 0.00001
NM_004727.3(SLC24A1):c.*1016G>A rs1319803654
NM_004727.3(SLC24A1):c.*1099A>T rs886051354
NM_004727.3(SLC24A1):c.*1346C>A rs777291212
NM_004727.3(SLC24A1):c.*1883A>G rs2075670262
NM_004727.3(SLC24A1):c.*1959A>G rs1596361110
NM_004727.3(SLC24A1):c.*2146T>G rs77255459
NM_004727.3(SLC24A1):c.*349C>T rs184758393
NM_004727.3(SLC24A1):c.*858C>T rs2075630737
NM_004727.3(SLC24A1):c.*986G>T rs2075635357
NM_004727.3(SLC24A1):c.1271C>A (p.Pro424His) rs919442711
NM_004727.3(SLC24A1):c.1613_1614del (p.Phe538fs)
NM_004727.3(SLC24A1):c.1691_1693del (p.Phe564del) rs1555403793
NM_004727.3(SLC24A1):c.1886G>A (p.Ser629Asn) rs2074500484
NM_004727.3(SLC24A1):c.1976C>A (p.Ser659Ter) rs367858805
NM_004727.3(SLC24A1):c.2053+6C>T rs886051350
NM_004727.3(SLC24A1):c.2106C>T (p.Ala702=) rs2075238543
NM_004727.3(SLC24A1):c.222G>T (p.Met74Ile) rs370527618
NM_004727.3(SLC24A1):c.2516G>T (p.Gly839Val) rs2075464806
NM_004727.3(SLC24A1):c.2574T>G (p.Asp858Glu) rs2075467314
NM_004727.3(SLC24A1):c.2661A>G (p.Glu887=) rs886051352
NM_004727.3(SLC24A1):c.2838G>A (p.Met946Ile) rs760348512
NM_004727.3(SLC24A1):c.2968A>C (p.Ser990Arg) rs1555407654
NM_004727.3(SLC24A1):c.2T>C (p.Met1Thr) rs886051347
NM_004727.3(SLC24A1):c.3050+3G>C rs758702980
NM_004727.3(SLC24A1):c.3072T>C (p.Leu1024=) rs139757342
NM_004727.3(SLC24A1):c.3291_3294del (p.Val1099fs) rs766780281
NM_004727.3(SLC24A1):c.425_428del (p.Glu142fs) rs886051349
NM_004727.3(SLC24A1):c.639G>T (p.Ala213=) rs781442429

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