ClinVar Miner

List of variants in gene SPTAN1 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.959G>A (p.Arg320His) rs140076136 0.00011
NM_001130438.3(SPTAN1):c.2221G>T (p.Ala741Ser) rs200241514 0.00005
NM_001130438.3(SPTAN1):c.3779A>G (p.Asn1260Ser) rs552623597 0.00004
NM_001130438.3(SPTAN1):c.4309C>T (p.Arg1437Cys) rs373033857 0.00004
NM_001130438.3(SPTAN1):c.3248G>A (p.Arg1083His) rs369611161 0.00003
NM_001130438.3(SPTAN1):c.1040G>A (p.Arg347His) rs796053314 0.00002
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys) rs368482631 0.00002
NM_001130438.3(SPTAN1):c.1648G>T (p.Ala550Ser) rs371178746 0.00002
NM_001130438.3(SPTAN1):c.1770T>G (p.Asn590Lys) rs781048881 0.00002
NM_001130438.3(SPTAN1):c.3985G>C (p.Asp1329His) rs1368132952 0.00002
NM_001130438.3(SPTAN1):c.4280G>A (p.Arg1427His) rs762216368 0.00002
NM_001130438.3(SPTAN1):c.4525G>A (p.Asp1509Asn) rs757714696 0.00002
NM_001130438.3(SPTAN1):c.6308A>G (p.Lys2103Arg) rs796053322 0.00002
NM_001130438.3(SPTAN1):c.6424C>T (p.Arg2142Cys) rs796053323 0.00002
NM_001130438.3(SPTAN1):c.1375C>T (p.Arg459Cys) rs772281075 0.00001
NM_001130438.3(SPTAN1):c.1799C>A (p.Ala600Asp) rs745720603 0.00001
NM_001130438.3(SPTAN1):c.1883T>C (p.Ile628Thr) rs1564224960 0.00001
NM_001130438.3(SPTAN1):c.2588C>G (p.Ala863Gly) rs775545003 0.00001
NM_001130438.3(SPTAN1):c.2614T>C (p.Trp872Arg) rs899998696 0.00001
NM_001130438.3(SPTAN1):c.3035G>A (p.Arg1012His) rs1265382491 0.00001
NM_001130438.3(SPTAN1):c.3156-11C>G rs781434997 0.00001
NM_001130438.3(SPTAN1):c.3161G>A (p.Arg1054His) rs561564501 0.00001
NM_001130438.3(SPTAN1):c.3358G>A (p.Gly1120Arg) rs748698544 0.00001
NM_001130438.3(SPTAN1):c.3466G>C (p.Asp1156His) rs1854608331 0.00001
NM_001130438.3(SPTAN1):c.3482G>T (p.Gly1161Val) rs1060503492 0.00001
NM_001130438.3(SPTAN1):c.368G>A (p.Arg123His) rs775634580 0.00001
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro) rs776728710 0.00001
NM_001130438.3(SPTAN1):c.4276G>C (p.Glu1426Gln) rs1796996192 0.00001
NM_001130438.3(SPTAN1):c.4576C>T (p.Arg1526Cys) rs796053317 0.00001
NM_001130438.3(SPTAN1):c.4582G>A (p.Glu1528Lys) rs780433514 0.00001
NM_001130438.3(SPTAN1):c.4930C>G (p.Gln1644Glu) rs1312145167 0.00001
NM_001130438.3(SPTAN1):c.5281C>T (p.Arg1761Trp) rs764247109 0.00001
NM_001130438.3(SPTAN1):c.6014A>G (p.Lys2005Arg) rs754276364 0.00001
NM_001130438.3(SPTAN1):c.615T>A (p.Val205=) rs763385120 0.00001
NM_001130438.3(SPTAN1):c.6208T>G (p.Trp2070Gly) rs766038302 0.00001
NM_001130438.3(SPTAN1):c.6228C>G (p.Asn2076Lys) rs752560514 0.00001
NM_001130438.3(SPTAN1):c.6425G>A (p.Arg2142His) rs796053324 0.00001
NM_001130438.3(SPTAN1):c.6794G>C (p.Ser2265Thr) rs796053326 0.00001
NM_001130438.3(SPTAN1):c.1105G>C (p.Asp369His)
NM_001130438.3(SPTAN1):c.1162G>A (p.Glu388Lys) rs2131029996
NM_001130438.3(SPTAN1):c.1170_1175delinsAAGTGT (p.Asp392Val)
NM_001130438.3(SPTAN1):c.1202A>T (p.Asp401Val) rs2131030682
NM_001130438.3(SPTAN1):c.1298A>T (p.Tyr433Phe) rs2131062140
NM_001130438.3(SPTAN1):c.1300G>T (p.Ala434Ser)
NM_001130438.3(SPTAN1):c.1334T>C (p.Leu445Pro)
NM_001130438.3(SPTAN1):c.1352C>A (p.Ala451Glu)
NM_001130438.3(SPTAN1):c.1366_1374dup (p.Leu458_Arg459insTrpGluLeu)
NM_001130438.3(SPTAN1):c.1383_1384delinsTT (p.Gln461_Gln462delinsHisTer) rs2131088955
NM_001130438.3(SPTAN1):c.1420C>T (p.Arg474Trp) rs1461072315
NM_001130438.3(SPTAN1):c.1445G>T (p.Trp482Leu) rs2131090131
NM_001130438.3(SPTAN1):c.1463C>T (p.Ala488Val) rs1851980146
NM_001130438.3(SPTAN1):c.148C>A (p.Gln50Lys)
NM_001130438.3(SPTAN1):c.1514T>A (p.Leu505His)
NM_001130438.3(SPTAN1):c.1739G>A (p.Arg580His)
NM_001130438.3(SPTAN1):c.1949C>T (p.Ala650Val) rs1057524587
NM_001130438.3(SPTAN1):c.2066A>G (p.Asp689Gly)
NM_001130438.3(SPTAN1):c.2094A>C (p.Glu698Asp) rs1554746116
NM_001130438.3(SPTAN1):c.2193+3A>G
NM_001130438.3(SPTAN1):c.2207G>C (p.Gly736Ala)
NM_001130438.3(SPTAN1):c.2209A>G (p.Ile737Val) rs1129922
NM_001130438.3(SPTAN1):c.226A>G (p.Thr76Ala) rs753016149
NM_001130438.3(SPTAN1):c.2282C>T (p.Ala761Val) rs770359554
NM_001130438.3(SPTAN1):c.2291C>G (p.Ala764Gly)
NM_001130438.3(SPTAN1):c.2298T>A (p.Tyr766Ter) rs2131162364
NM_001130438.3(SPTAN1):c.2353C>T (p.Arg785Trp) rs1253697977
NM_001130438.3(SPTAN1):c.2660A>C (p.Glu887Ala)
NM_001130438.3(SPTAN1):c.2752T>C (p.Tyr918His) rs1589224403
NM_001130438.3(SPTAN1):c.2779-2A>G
NM_001130438.3(SPTAN1):c.2894A>G (p.Asp965Gly)
NM_001130438.3(SPTAN1):c.2929G>C (p.Asp977His) rs1853044906
NM_001130438.3(SPTAN1):c.2988dup (p.Leu997fs) rs2131267665
NM_001130438.3(SPTAN1):c.3139G>A (p.Glu1047Lys) rs1853536448
NM_001130438.3(SPTAN1):c.3171G>T (p.Lys1057Asn)
NM_001130438.3(SPTAN1):c.3262G>A (p.Glu1088Lys) rs780374369
NM_001130438.3(SPTAN1):c.3416A>T (p.Asp1139Val) rs2131437230
NM_001130438.3(SPTAN1):c.3474G>C (p.Glu1158Asp) rs2131437997
NM_001130438.3(SPTAN1):c.3490G>A (p.Ala1164Thr) rs796053316
NM_001130438.3(SPTAN1):c.3569C>A (p.Ser1190Tyr) rs1046110538
NM_001130438.3(SPTAN1):c.367C>G (p.Arg123Gly)
NM_001130438.3(SPTAN1):c.3796G>A (p.Ala1266Thr) rs1185147138
NM_001130438.3(SPTAN1):c.3991C>A (p.Arg1331Ser) rs1407200590
NM_001130438.3(SPTAN1):c.4139G>A (p.Arg1380Gln)
NM_001130438.3(SPTAN1):c.4165G>A (p.Asp1389Asn)
NM_001130438.3(SPTAN1):c.418G>T (p.Glu140Ter) rs2130965618
NM_001130438.3(SPTAN1):c.4231T>C (p.Tyr1411His) rs2131617024
NM_001130438.3(SPTAN1):c.4357G>C (p.Asp1453His)
NM_001130438.3(SPTAN1):c.4457A>C (p.Lys1486Thr)
NM_001130438.3(SPTAN1):c.4478C>T (p.Ala1493Val) rs2131621179
NM_001130438.3(SPTAN1):c.4587C>A (p.Val1529=)
NM_001130438.3(SPTAN1):c.4648T>C (p.Ser1550Pro)
NM_001130438.3(SPTAN1):c.465A>G (p.Leu155=) rs2130966272
NM_001130438.3(SPTAN1):c.4733C>A (p.Ser1578Ter) rs756887707
NM_001130438.3(SPTAN1):c.4938G>C (p.Gln1646His)
NM_001130438.3(SPTAN1):c.518C>G (p.Thr173Ser) rs2130975716
NM_001130438.3(SPTAN1):c.5206G>A (p.Asp1736Asn) rs148294757
NM_001130438.3(SPTAN1):c.5264A>G (p.Lys1755Arg) rs1857087403
NM_001130438.3(SPTAN1):c.5388C>G (p.Asp1796Glu)
NM_001130438.3(SPTAN1):c.5396G>A (p.Arg1799Gln)
NM_001130438.3(SPTAN1):c.5400C>G (p.Asp1800Glu) rs779973472
NM_001130438.3(SPTAN1):c.5452C>G (p.Leu1818Val) rs2131791669
NM_001130438.3(SPTAN1):c.5572A>G (p.Lys1858Glu)
NM_001130438.3(SPTAN1):c.5806A>G (p.Thr1936Ala) rs1857810076
NM_001130438.3(SPTAN1):c.5809A>G (p.Asn1937Asp) rs1554764758
NM_001130438.3(SPTAN1):c.583C>T (p.Gln195Ter) rs2130976217
NM_001130438.3(SPTAN1):c.5921A>G (p.Lys1974Arg) rs1858423393
NM_001130438.3(SPTAN1):c.5984C>T (p.Ser1995Phe)
NM_001130438.3(SPTAN1):c.6027T>G (p.Tyr2009Ter) rs1554766334
NM_001130438.3(SPTAN1):c.6031C>T (p.Arg2011Ter) rs2131938862
NM_001130438.3(SPTAN1):c.6082G>A (p.Ala2028Thr)
NM_001130438.3(SPTAN1):c.6135dup (p.Asp2046fs)
NM_001130438.3(SPTAN1):c.6139C>G (p.Gln2047Glu)
NM_001130438.3(SPTAN1):c.6266G>C (p.Ser2089Thr)
NM_001130438.3(SPTAN1):c.6270C>A (p.His2090Gln) rs370102482
NM_001130438.3(SPTAN1):c.6273_6274delinsTT (p.Arg2092Cys) rs796053333
NM_001130438.3(SPTAN1):c.6356_6357insC (p.Leu2119fs) rs2131965616
NM_001130438.3(SPTAN1):c.6606G>C (p.Gln2202His) rs1357160380
NM_001130438.3(SPTAN1):c.6610C>T (p.Arg2204Trp) rs1057524104
NM_001130438.3(SPTAN1):c.6706G>A (p.Gly2236Arg)
NM_001130438.3(SPTAN1):c.6749T>C (p.Leu2250Pro)
NM_001130438.3(SPTAN1):c.6852CAA[1] (p.Asn2285del) rs2132088873
NM_001130438.3(SPTAN1):c.6887C>T (p.Ala2296Val) rs2132089514
NM_001130438.3(SPTAN1):c.7014-16_7014-13delinsAGGT rs796053336
NM_001130438.3(SPTAN1):c.7061A>C (p.Lys2354Thr) rs768911375
NM_001130438.3(SPTAN1):c.7075T>C (p.Ser2359Pro) rs2132100320
NM_001130438.3(SPTAN1):c.7121C>G (p.Pro2374Arg) rs796053330
NM_001130438.3(SPTAN1):c.7129G>C (p.Glu2377Gln) rs757162652
NM_001130438.3(SPTAN1):c.7208G>A (p.Arg2403His) rs1280116999
NM_001130438.3(SPTAN1):c.7395C>A (p.Phe2465Leu) rs752878085
NM_001130438.3(SPTAN1):c.937G>C (p.Ala313Pro) rs778408492

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