ClinVar Miner

List of variants in gene SPATA5 reported as likely benign for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 93
Download table as spreadsheet
HGVS dbSNP
NM_145207.3(SPATA5):c.1084C>T (p.Leu362=)
NM_145207.3(SPATA5):c.1113G>A (p.Leu371=) rs772031133
NM_145207.3(SPATA5):c.1191T>A (p.Gly397=) rs1578530704
NM_145207.3(SPATA5):c.1209C>T (p.Ile403=) rs751925881
NM_145207.3(SPATA5):c.120G>T (p.Ala40=)
NM_145207.3(SPATA5):c.1277+8C>T
NM_145207.3(SPATA5):c.1277+9A>G
NM_145207.3(SPATA5):c.1278-10T>C rs376606287
NM_145207.3(SPATA5):c.1290G>A (p.Glu430=)
NM_145207.3(SPATA5):c.1334+6_1334+9del rs752274594
NM_145207.3(SPATA5):c.1359T>C (p.Asp453=)
NM_145207.3(SPATA5):c.1365G>A (p.Leu455=) rs767423681
NM_145207.3(SPATA5):c.1380G>A (p.Pro460=)
NM_145207.3(SPATA5):c.1401T>C (p.Asn467=) rs962940409
NM_145207.3(SPATA5):c.1473A>G (p.Gly491=) rs1578556696
NM_145207.3(SPATA5):c.1488T>G (p.Leu496=)
NM_145207.3(SPATA5):c.1509T>C (p.His503=) rs771656456
NM_145207.3(SPATA5):c.151T>C (p.Leu51=)
NM_145207.3(SPATA5):c.1542A>T (p.Arg514=)
NM_145207.3(SPATA5):c.1587G>T (p.Arg529=) rs140187138
NM_145207.3(SPATA5):c.1632C>T (p.Leu544=) rs776611921
NM_145207.3(SPATA5):c.164-4A>G
NM_145207.3(SPATA5):c.1647G>T (p.Leu549=)
NM_145207.3(SPATA5):c.1677C>T (p.Tyr559=) rs139834687
NM_145207.3(SPATA5):c.1699T>C (p.Leu567=)
NM_145207.3(SPATA5):c.1714+10G>A rs1578557531
NM_145207.3(SPATA5):c.1715-9T>C rs1578611841
NM_145207.3(SPATA5):c.1737C>T (p.Ile579=) rs145527745
NM_145207.3(SPATA5):c.1788G>A (p.Lys596=) rs760721504
NM_145207.3(SPATA5):c.1833C>T (p.Pro611=) rs1391843100
NM_145207.3(SPATA5):c.1870-9A>G
NM_145207.3(SPATA5):c.1887A>C (p.Ile629=)
NM_145207.3(SPATA5):c.1941A>G (p.Leu647=) rs1578710537
NM_145207.3(SPATA5):c.1956T>C (p.Ser652=)
NM_145207.3(SPATA5):c.1992T>C (p.Val664=)
NM_145207.3(SPATA5):c.2010T>C (p.Pro670=)
NM_145207.3(SPATA5):c.201T>A (p.Leu67=)
NM_145207.3(SPATA5):c.2037G>A (p.Lys679=)
NM_145207.3(SPATA5):c.2055T>C (p.Ser685=)
NM_145207.3(SPATA5):c.2080-4G>T rs372642536
NM_145207.3(SPATA5):c.2103T>C (p.Tyr701=) rs375587472
NM_145207.3(SPATA5):c.2160G>A (p.Ala720=) rs780763378
NM_145207.3(SPATA5):c.2172T>C (p.Ile724=)
NM_145207.3(SPATA5):c.2202T>C (p.Val734=) rs373009847
NM_145207.3(SPATA5):c.2219T>C (p.Leu740Ser) rs199626476
NM_145207.3(SPATA5):c.2229G>A (p.Gly743=) rs1578811280
NM_145207.3(SPATA5):c.2238C>T (p.Ala746=)
NM_145207.3(SPATA5):c.2340+9G>A
NM_145207.3(SPATA5):c.2343T>G (p.Ala781=) rs1579053359
NM_145207.3(SPATA5):c.243T>C (p.Cys81=)
NM_145207.3(SPATA5):c.2466T>C (p.Asp822=)
NM_145207.3(SPATA5):c.2469A>G (p.Glu823=)
NM_145207.3(SPATA5):c.2484C>A (p.Thr828=) rs76934283
NM_145207.3(SPATA5):c.2487C>T (p.Asp829=)
NM_145207.3(SPATA5):c.2536C>T (p.Leu846=)
NM_145207.3(SPATA5):c.2629T>C (p.Leu877=) rs753879696
NM_145207.3(SPATA5):c.2636G>A (p.Arg879His)
NM_145207.3(SPATA5):c.2643T>C (p.Tyr881=)
NM_145207.3(SPATA5):c.276C>T (p.Asn92=) rs775386233
NM_145207.3(SPATA5):c.288+9C>G
NM_145207.3(SPATA5):c.289-8_289-7insAACATTTATTTC rs1463673475
NM_145207.3(SPATA5):c.289-9G>C rs756829452
NM_145207.3(SPATA5):c.28T>C (p.Leu10=)
NM_145207.3(SPATA5):c.333C>T (p.Val111=)
NM_145207.3(SPATA5):c.372G>A (p.Arg124=)
NM_145207.3(SPATA5):c.384C>T (p.Ala128=) rs1351835391
NM_145207.3(SPATA5):c.426G>A (p.Glu142=) rs779704127
NM_145207.3(SPATA5):c.446+8T>C
NM_145207.3(SPATA5):c.450C>T (p.Asp150=)
NM_145207.3(SPATA5):c.492C>A (p.Ile164=) rs991945925
NM_145207.3(SPATA5):c.492C>T (p.Ile164=) rs991945925
NM_145207.3(SPATA5):c.506-5T>C
NM_145207.3(SPATA5):c.506-7T>C rs769155617
NM_145207.3(SPATA5):c.560C>T (p.Pro187Leu) rs746128411
NM_145207.3(SPATA5):c.561G>A (p.Pro187=) rs545967731
NM_145207.3(SPATA5):c.577T>C (p.Leu193=)
NM_145207.3(SPATA5):c.585G>A (p.Val195=) rs372782312
NM_145207.3(SPATA5):c.630T>A (p.Ser210=) rs763496930
NM_145207.3(SPATA5):c.637G>A (p.Asp213Asn) rs139066705
NM_145207.3(SPATA5):c.691T>C (p.Leu231=)
NM_145207.3(SPATA5):c.753T>G (p.Thr251=)
NM_145207.3(SPATA5):c.75C>T (p.Ser25=)
NM_145207.3(SPATA5):c.766A>G (p.Ile256Val) rs143384152
NM_145207.3(SPATA5):c.798T>C (p.Asp266=) rs369292228
NM_145207.3(SPATA5):c.825T>G (p.Pro275=) rs533190093
NM_145207.3(SPATA5):c.830A>T (p.Asp277Val) rs150370442
NM_145207.3(SPATA5):c.896G>T (p.Gly299Val) rs75871497
NM_145207.3(SPATA5):c.930A>G (p.Leu310=) rs141742510
NM_145207.3(SPATA5):c.936C>T (p.Phe312=) rs1304551030
NM_145207.3(SPATA5):c.948A>G (p.Ala316=)
NM_145207.3(SPATA5):c.951G>A (p.Lys317=) rs1228490378
NM_145207.3(SPATA5):c.987A>G (p.Thr329=) rs759187216
NM_145207.3(SPATA5):c.996C>T (p.Val332=)

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