ClinVar Miner

List of variants in gene SPATA5 reported as uncertain significance for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 196
Download table as spreadsheet
HGVS dbSNP
NC_000004.11:g.(?_123868378)_(123900551_?)dup
NC_000004.12:g.(?_122923123)_(123256200_?)dup
NC_000004.12:g.(?_122947213)_(122979406_?)dup
NM_145207.3(SPATA5):c.1004C>T (p.Thr335Ile)
NM_145207.3(SPATA5):c.1006G>A (p.Glu336Lys)
NM_145207.3(SPATA5):c.1010T>C (p.Ile337Thr)
NM_145207.3(SPATA5):c.1039C>A (p.Gln347Lys)
NM_145207.3(SPATA5):c.1042T>C (p.Phe348Leu)
NM_145207.3(SPATA5):c.1045A>G (p.Lys349Glu)
NM_145207.3(SPATA5):c.1049T>A (p.Val350Glu) rs1286156167
NM_145207.3(SPATA5):c.1064T>G (p.Ile355Arg)
NM_145207.3(SPATA5):c.1069G>A (p.Gly357Arg)
NM_145207.3(SPATA5):c.1075A>G (p.Ser359Gly)
NM_145207.3(SPATA5):c.1079G>A (p.Ser360Asn)
NM_145207.3(SPATA5):c.1091C>T (p.Ala364Val)
NM_145207.3(SPATA5):c.1100A>T (p.Glu367Val) rs972337890
NM_145207.3(SPATA5):c.1121A>G (p.Lys374Arg)
NM_145207.3(SPATA5):c.1133T>G (p.Leu378Arg) rs1553955916
NM_145207.3(SPATA5):c.1142G>C (p.Ser381Thr)
NM_145207.3(SPATA5):c.1151T>C (p.Ile384Thr) rs780025409
NM_145207.3(SPATA5):c.1154C>T (p.Pro385Leu) rs1553956091
NM_145207.3(SPATA5):c.1156G>A (p.Ala386Thr)
NM_145207.3(SPATA5):c.1159C>T (p.Pro387Ser) rs201751275
NM_145207.3(SPATA5):c.1169T>G (p.Val390Gly)
NM_145207.3(SPATA5):c.1192A>G (p.Thr398Ala)
NM_145207.3(SPATA5):c.1222G>A (p.Ala408Thr)
NM_145207.3(SPATA5):c.1231G>T (p.Val411Phe)
NM_145207.3(SPATA5):c.124A>G (p.Thr42Ala)
NM_145207.3(SPATA5):c.1277A>C (p.Lys426Thr)
NM_145207.3(SPATA5):c.127T>A (p.Ser43Thr)
NM_145207.3(SPATA5):c.128C>G (p.Ser43Cys)
NM_145207.3(SPATA5):c.12GAA[1] (p.Lys5del)
NM_145207.3(SPATA5):c.1306C>T (p.Arg436Cys)
NM_145207.3(SPATA5):c.1334G>A (p.Arg445Gln)
NM_145207.3(SPATA5):c.1336C>T (p.His446Tyr)
NM_145207.3(SPATA5):c.133A>G (p.Thr45Ala) rs1188216410
NM_145207.3(SPATA5):c.1343C>T (p.Ser448Leu) rs766034355
NM_145207.3(SPATA5):c.1345A>G (p.Ile449Val) rs1175885311
NM_145207.3(SPATA5):c.1379C>T (p.Pro460Leu) rs752448565
NM_145207.3(SPATA5):c.1392G>T (p.Gly464=)
NM_145207.3(SPATA5):c.13A>G (p.Lys5Glu)
NM_145207.3(SPATA5):c.1400A>G (p.Asn467Ser)
NM_145207.3(SPATA5):c.1416A>T (p.Arg472Ser)
NM_145207.3(SPATA5):c.1417G>C (p.Val473Leu)
NM_145207.3(SPATA5):c.1433T>C (p.Leu478Ser) rs1352778644
NM_145207.3(SPATA5):c.1441A>T (p.Met481Leu) rs769181441
NM_145207.3(SPATA5):c.1451T>C (p.Ile484Thr)
NM_145207.3(SPATA5):c.1458A>T (p.Ser486=)
NM_145207.3(SPATA5):c.1473A>T (p.Gly491=)
NM_145207.3(SPATA5):c.1484T>C (p.Val495Ala)
NM_145207.3(SPATA5):c.1495A>C (p.Thr499Pro)
NM_145207.3(SPATA5):c.1498A>G (p.Asn500Asp) rs770721082
NM_145207.3(SPATA5):c.1502G>A (p.Arg501His) rs148135198
NM_145207.3(SPATA5):c.1505C>T (p.Pro502Leu)
NM_145207.3(SPATA5):c.1508A>C (p.His503Pro)
NM_145207.3(SPATA5):c.1522G>A (p.Ala508Thr)
NM_145207.3(SPATA5):c.1523C>T (p.Ala508Val)
NM_145207.3(SPATA5):c.1525C>T (p.Leu509Phe)
NM_145207.3(SPATA5):c.1562T>C (p.Ile521Thr)
NM_145207.3(SPATA5):c.1564G>A (p.Gly522Arg)
NM_145207.3(SPATA5):c.1574A>G (p.Asn525Ser)
NM_145207.3(SPATA5):c.1585C>T (p.Arg529Trp)
NM_145207.3(SPATA5):c.1592A>G (p.Asp531Gly) rs1578557046
NM_145207.3(SPATA5):c.15G>C (p.Lys5Asn)
NM_145207.3(SPATA5):c.1621C>T (p.Pro541Ser)
NM_145207.3(SPATA5):c.1622C>G (p.Pro541Arg) rs143957561
NM_145207.3(SPATA5):c.1622C>T (p.Pro541Leu) rs143957561
NM_145207.3(SPATA5):c.164-3T>C
NM_145207.3(SPATA5):c.164-4A>G
NM_145207.3(SPATA5):c.1664G>C (p.Ser555Thr) rs111333879
NM_145207.3(SPATA5):c.1670A>C (p.His557Pro) rs373256503
NM_145207.3(SPATA5):c.1670A>G (p.His557Arg) rs373256503
NM_145207.3(SPATA5):c.16A>G (p.Asn6Asp)
NM_145207.3(SPATA5):c.1715-4A>G
NM_145207.3(SPATA5):c.1729C>T (p.Arg577Trp) rs201782536
NM_145207.3(SPATA5):c.1730G>A (p.Arg577Gln)
NM_145207.3(SPATA5):c.1748A>G (p.Gln583Arg)
NM_145207.3(SPATA5):c.1793C>A (p.Thr598Asn)
NM_145207.3(SPATA5):c.1810C>G (p.Gln604Glu)
NM_145207.3(SPATA5):c.1816A>G (p.Met606Val)
NM_145207.3(SPATA5):c.183A>C (p.Lys61Asn)
NM_145207.3(SPATA5):c.1859A>G (p.Asp620Gly)
NM_145207.3(SPATA5):c.1862T>C (p.Val621Ala)
NM_145207.3(SPATA5):c.1868A>T (p.Asn623Ile)
NM_145207.3(SPATA5):c.1873T>C (p.Ser625Pro)
NM_145207.3(SPATA5):c.1877G>C (p.Trp626Ser) rs375343753
NM_145207.3(SPATA5):c.1878G>T (p.Trp626Cys)
NM_145207.3(SPATA5):c.1909C>G (p.Leu637Val) rs1303699326
NM_145207.3(SPATA5):c.1912A>G (p.Lys638Glu) rs560475969
NM_145207.3(SPATA5):c.192G>T (p.Gln64His)
NM_145207.3(SPATA5):c.1963C>G (p.Arg655Gly) rs763737752
NM_145207.3(SPATA5):c.1964G>A (p.Arg655Gln) rs147873489
NM_145207.3(SPATA5):c.1967T>C (p.Met656Thr)
NM_145207.3(SPATA5):c.1978C>T (p.Pro660Ser)
NM_145207.3(SPATA5):c.1A>C (p.Met1Leu) rs552219028
NM_145207.3(SPATA5):c.1A>G (p.Met1Val) rs552219028
NM_145207.3(SPATA5):c.1A>T (p.Met1Leu) rs552219028
NM_145207.3(SPATA5):c.2000A>G (p.Tyr667Cys) rs998357703
NM_145207.3(SPATA5):c.2017T>A (p.Ser673Thr)
NM_145207.3(SPATA5):c.2050G>A (p.Glu684Lys) rs774587301
NM_145207.3(SPATA5):c.2052G>C (p.Glu684Asp)
NM_145207.3(SPATA5):c.206A>G (p.His69Arg)
NM_145207.3(SPATA5):c.2074A>G (p.Ile692Val) rs370427695
NM_145207.3(SPATA5):c.2075T>C (p.Ile692Thr)
NM_145207.3(SPATA5):c.207T>A (p.His69Gln)
NM_145207.3(SPATA5):c.2081G>A (p.Gly694Glu) rs141576468
NM_145207.3(SPATA5):c.2088A>C (p.Glu696Asp)
NM_145207.3(SPATA5):c.2117A>G (p.Glu706Gly)
NM_145207.3(SPATA5):c.2134-4C>G rs375025031
NM_145207.3(SPATA5):c.2141G>A (p.Arg714Gln)
NM_145207.3(SPATA5):c.2144A>C (p.Lys715Thr)
NM_145207.3(SPATA5):c.2189A>G (p.Asp730Gly)
NM_145207.3(SPATA5):c.2191G>T (p.Ala731Ser)
NM_145207.3(SPATA5):c.2214-5A>G rs1560952661
NM_145207.3(SPATA5):c.2233G>A (p.Val745Ile)
NM_145207.3(SPATA5):c.2239G>A (p.Asp747Asn) rs138229076
NM_145207.3(SPATA5):c.223A>G (p.Met75Val) rs1311055750
NM_145207.3(SPATA5):c.2242C>T (p.Arg748Cys)
NM_145207.3(SPATA5):c.2257C>T (p.Leu753Phe)
NM_145207.3(SPATA5):c.226A>C (p.Lys76Gln)
NM_145207.3(SPATA5):c.2284C>G (p.Gln762Glu) rs1207469751
NM_145207.3(SPATA5):c.229T>G (p.Ser77Ala) rs755797663
NM_145207.3(SPATA5):c.2320C>T (p.Arg774Cys)
NM_145207.3(SPATA5):c.2321G>A (p.Arg774His) rs539850739
NM_145207.3(SPATA5):c.2342C>G (p.Ala781Gly)
NM_145207.3(SPATA5):c.2348T>G (p.Met783Arg)
NM_145207.3(SPATA5):c.238A>G (p.Ile80Val)
NM_145207.3(SPATA5):c.2390C>T (p.Pro797Leu)
NM_145207.3(SPATA5):c.2391G>A (p.Pro797=)
NM_145207.3(SPATA5):c.2396C>A (p.Ala799Glu)
NM_145207.3(SPATA5):c.239T>C (p.Ile80Thr)
NM_145207.3(SPATA5):c.2405G>A (p.Arg802Lys)
NM_145207.3(SPATA5):c.2406A>C (p.Arg802Ser)
NM_145207.3(SPATA5):c.2413A>G (p.Ile805Val)
NM_145207.3(SPATA5):c.2440C>T (p.Pro814Ser) rs1246300838
NM_145207.3(SPATA5):c.2456T>C (p.Val819Ala) rs149604630
NM_145207.3(SPATA5):c.2483C>G (p.Thr828Ser)
NM_145207.3(SPATA5):c.2485G>A (p.Asp829Asn) rs35206443
NM_145207.3(SPATA5):c.2505G>C (p.Glu835Asp)
NM_145207.3(SPATA5):c.2526G>C (p.Glu842Asp)
NM_145207.3(SPATA5):c.2527G>A (p.Ala843Thr)
NM_145207.3(SPATA5):c.2531C>T (p.Ala844Val) rs796051892
NM_145207.3(SPATA5):c.2533C>T (p.Leu845Phe) rs777160273
NM_145207.3(SPATA5):c.2586C>G (p.Phe862Leu)
NM_145207.3(SPATA5):c.2623G>A (p.Glu875Lys)
NM_145207.3(SPATA5):c.2635C>T (p.Arg879Cys) rs28716389
NM_145207.3(SPATA5):c.2642A>G (p.Tyr881Cys)
NM_145207.3(SPATA5):c.2642A>T (p.Tyr881Phe)
NM_145207.3(SPATA5):c.2648A>G (p.Asp883Gly) rs780388261
NM_145207.3(SPATA5):c.2653C>G (p.Gln885Glu) rs1387497334
NM_145207.3(SPATA5):c.266C>G (p.Thr89Ser)
NM_145207.3(SPATA5):c.277G>A (p.Gly93Arg) rs758521022
NM_145207.3(SPATA5):c.2T>C (p.Met1Thr) rs765170329
NM_145207.3(SPATA5):c.314G>C (p.Gly105Ala)
NM_145207.3(SPATA5):c.329A>G (p.Lys110Arg)
NM_145207.3(SPATA5):c.367G>T (p.Val123Leu) rs150058325
NM_145207.3(SPATA5):c.398C>T (p.Pro133Leu)
NM_145207.3(SPATA5):c.410C>T (p.Ala137Val) rs778362935
NM_145207.3(SPATA5):c.416T>A (p.Leu139Gln) rs749960674
NM_145207.3(SPATA5):c.436G>A (p.Val146Met) rs374771569
NM_145207.3(SPATA5):c.463A>G (p.Ile155Val)
NM_145207.3(SPATA5):c.484G>A (p.Gly162Ser)
NM_145207.3(SPATA5):c.535C>G (p.Leu179Val)
NM_145207.3(SPATA5):c.554G>A (p.Gly185Glu)
NM_145207.3(SPATA5):c.566A>G (p.Lys189Arg)
NM_145207.3(SPATA5):c.59T>C (p.Leu20Ser)
NM_145207.3(SPATA5):c.601A>G (p.Met201Val) rs377137936
NM_145207.3(SPATA5):c.616C>A (p.Pro206Thr)
NM_145207.3(SPATA5):c.637G>A (p.Asp213Asn) rs139066705
NM_145207.3(SPATA5):c.644A>G (p.Gln215Arg)
NM_145207.3(SPATA5):c.649A>G (p.Met217Val) rs533234061
NM_145207.3(SPATA5):c.65C>G (p.Ser22Cys) rs1560780127
NM_145207.3(SPATA5):c.665C>T (p.Ser222Phe) rs143998697
NM_145207.3(SPATA5):c.694T>C (p.Ser232Pro)
NM_145207.3(SPATA5):c.700C>A (p.Gln234Lys) rs775269863
NM_145207.3(SPATA5):c.700C>G (p.Gln234Glu)
NM_145207.3(SPATA5):c.71C>G (p.Ala24Gly)
NM_145207.3(SPATA5):c.734T>G (p.Ile245Ser)
NM_145207.3(SPATA5):c.739A>G (p.Thr247Ala) rs1295604845
NM_145207.3(SPATA5):c.763C>A (p.Pro255Thr)
NM_145207.3(SPATA5):c.764C>A (p.Pro255Gln)
NM_145207.3(SPATA5):c.774C>G (p.Asp258Glu)
NM_145207.3(SPATA5):c.778A>G (p.Ile260Val) rs200105631
NM_145207.3(SPATA5):c.77C>G (p.Ser26Cys)
NM_145207.3(SPATA5):c.799G>A (p.Val267Ile)
NM_145207.3(SPATA5):c.847C>G (p.Leu283Val)
NM_145207.3(SPATA5):c.889A>G (p.Arg297Gly) rs568838818
NM_145207.3(SPATA5):c.899A>G (p.Asn300Ser)
NM_145207.3(SPATA5):c.911C>T (p.Thr304Ile)
NM_145207.3(SPATA5):c.92G>A (p.Arg31Gln)
NM_145207.3(SPATA5):c.937A>C (p.Ser313Arg)
NM_145207.3(SPATA5):c.956A>G (p.Asn319Ser)
NM_145207.3(SPATA5):c.971A>T (p.Tyr324Phe)
NM_145207.3(SPATA5):c.97C>T (p.Pro33Ser)
NM_145207.3(SPATA5):c.980C>G (p.Ser327Cys)
NM_145207.3(SPATA5):c.998A>G (p.Asn333Ser) rs1475303519

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.