ClinVar Miner

List of variants in gene SOX5 studied for autosomal anomaly

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_006940.6(SOX5):c.481+29A>G rs7980561 0.66790
NM_006940.6(SOX5):c.1129G>A (p.Asp377Asn) rs371364235 0.00001
NM_006940.6(SOX5):c.1226C>A (p.Pro409His) rs1565958110 0.00001
NM_006940.6(SOX5):c.179A>G (p.Asn60Ser) rs764767423 0.00001
GRCh37/hg19 12p12.1(chr12:23147341-23893799)x1
GRCh37/hg19 12p12.1(chr12:23685093-23728869)x1
GRCh37/hg19 12p12.1(chr12:23718347-23769414)x1
GRCh37/hg19 12p12.1(chr12:23723120-23908799)x1
GRCh37/hg19 12p12.1(chr12:23773664-23893799)x1
GRCh37/hg19 12p12.1(chr12:24102502-24173232)x1
NM_006940.6(SOX5):c.1017G>A (p.Gln339=) rs2138723102
NM_006940.6(SOX5):c.1050G>C (p.Gln350His) rs1566239985
NM_006940.6(SOX5):c.1060G>T (p.Gly354Ter) rs869025321
NM_006940.6(SOX5):c.1075G>A (p.Gly359Ser) rs754590341
NM_006940.6(SOX5):c.1136del (p.Ser379fs)
NM_006940.6(SOX5):c.1280G>A (p.Gly427Asp)
NM_006940.6(SOX5):c.1280G>T (p.Gly427Val) rs780885506
NM_006940.6(SOX5):c.1292C>T (p.Ala431Val)
NM_006940.6(SOX5):c.1303G>T (p.Ala435Ser)
NM_006940.6(SOX5):c.1343-4733C>T rs1947477250
NM_006940.6(SOX5):c.1411C>T (p.Arg471Ter) rs1592099852
NM_006940.6(SOX5):c.1465dup (p.Leu489fs) rs1592099396
NM_006940.6(SOX5):c.1477C>T (p.Arg493Ter) rs895607185
NM_006940.6(SOX5):c.1489-2A>G rs2136075793
NM_006940.6(SOX5):c.1597+2T>A rs1555141265
NM_006940.6(SOX5):c.1613C>G (p.Ser538Ter) rs1591909421
NM_006940.6(SOX5):c.1672C>T (p.Arg558Cys) rs1591908680
NM_006940.6(SOX5):c.1673G>A (p.Arg558His)
NM_006940.6(SOX5):c.1678A>G (p.Met560Val) rs1591908609
NM_006940.6(SOX5):c.1681A>C (p.Asn561His) rs1591908568
NM_006940.6(SOX5):c.1694T>A (p.Val565Glu)
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp) rs1565669640
NM_006940.6(SOX5):c.1712G>A (p.Arg571Gln)
NM_006940.6(SOX5):c.1712G>T (p.Arg571Leu) rs773832380
NM_006940.6(SOX5):c.1759A>T (p.Ser587Cys) rs1942462618
NM_006940.6(SOX5):c.1771+29G>A rs7485662
NM_006940.6(SOX5):c.1782G>A (p.Trp594Ter) rs1591833842
NM_006940.6(SOX5):c.1789A>G (p.Met597Val) rs1940534444
NM_006940.6(SOX5):c.1807C>T (p.Gln603Ter) rs2135894892
NM_006940.6(SOX5):c.1814A>C (p.Tyr605Ser) rs1591833522
NM_006940.6(SOX5):c.1814A>G (p.Tyr605Cys) rs1591833522
NM_006940.6(SOX5):c.1819G>T (p.Glu607Ter) rs1591833497
NM_006940.6(SOX5):c.1856A>G (p.Lys619Arg) rs1341736288
NM_006940.6(SOX5):c.1862del (p.Pro621fs)
NM_006940.6(SOX5):c.1864G>A (p.Asp622Asn)
NM_006940.6(SOX5):c.1867T>C (p.Tyr623His)
NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys) rs1591833159
NM_006940.6(SOX5):c.1895C>A (p.Thr632Asn) rs1135401816
NM_006940.6(SOX5):c.211T>C (p.Ser71Pro) rs2097171827
NM_006940.6(SOX5):c.2149G>A (p.Gly717Arg)
NM_006940.6(SOX5):c.224_225del (p.Gln75fs)
NM_006940.6(SOX5):c.2283A>C (p.Gln761His)
NM_006940.6(SOX5):c.251C>T (p.Thr84Ile) rs772035716
NM_006940.6(SOX5):c.291del (p.Met98fs)
NM_006940.6(SOX5):c.347G>C (p.Gly116Ala)
NM_006940.6(SOX5):c.352C>T (p.Arg118Ter) rs2136047948
NM_006940.6(SOX5):c.353G>T (p.Arg118Leu) rs1217393451
NM_006940.6(SOX5):c.392del (p.Thr131fs)
NM_006940.6(SOX5):c.405dup (p.Lys136fs) rs2096571436
NM_006940.6(SOX5):c.433dup (p.Thr145fs) rs2136046122
NM_006940.6(SOX5):c.482-2A>C rs1057518845
NM_006940.6(SOX5):c.518G>A (p.Trp173Ter) rs1594078334
NM_006940.6(SOX5):c.576C>T (p.Pro192=)
NM_006940.6(SOX5):c.5T>G (p.Leu2Arg)
NM_006940.6(SOX5):c.616A>G (p.Ile206Val) rs2093775713
NM_006940.6(SOX5):c.622C>T (p.Gln208Ter) rs1555307370
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter) rs767241917
NM_006940.6(SOX5):c.693T>G (p.Ile231Met)
NM_006940.6(SOX5):c.721del (p.Ala241fs)
NM_006940.6(SOX5):c.747_748del (p.Arg250fs) rs1555301854
NM_006940.6(SOX5):c.755dup (p.Gln253fs) rs2140907114
NM_006940.6(SOX5):c.798G>T (p.Gln266His) rs2093521806
NM_006940.6(SOX5):c.804G>T (p.Gln268His) rs2140906671
NM_006940.6(SOX5):c.814C>T (p.Gln272Ter)
NM_006940.6(SOX5):c.820C>T (p.Gln274Ter) rs1593090725
NM_006940.6(SOX5):c.913A>G (p.Ser305Gly)
NM_006940.6(SOX5):c.914G>A (p.Ser305Asn)
NM_006940.6(SOX5):c.932-2A>C
NM_006940.6(SOX5):c.956del (p.Ile319fs)
NM_006940.6(SOX5):c.959del (p.Pro320fs) rs2079966010
NM_006940.6(SOX5):c.988A>G (p.Thr330Ala) rs1224542564
NM_152989.5(SOX5):c.-1-87764T>C rs1949815031
NM_152989.5(SOX5):c.-175-344A>G rs2136240323

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