ClinVar Miner

List of variants in gene SOX5 studied for 12p12.1 microdeletion syndrome

Included ClinVar conditions (1):
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Gene type:
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Total variants: 34
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HGVS dbSNP
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
NC_000012.11:g.23979791_24033225del
NC_000012.12:g.23484745_23564581del
NC_000012.12:g.23488792_23626279del
NC_000012.12:g.23771866_23888764del
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.1411C>T (p.Arg471Ter)
NM_006940.6(SOX5):c.1465dup (p.Leu489fs)
NM_006940.6(SOX5):c.1477C>T (p.Arg493Ter)
NM_006940.6(SOX5):c.1597+2T>A rs1555141265
NM_006940.6(SOX5):c.1613C>G (p.Ser538Ter)
NM_006940.6(SOX5):c.1678A>G (p.Met560Val)
NM_006940.6(SOX5):c.1681A>C (p.Asn561His)
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp) rs1565669640
NM_006940.6(SOX5):c.1712G>T (p.Arg571Leu)
NM_006940.6(SOX5):c.1782G>A (p.Trp594Ter)
NM_006940.6(SOX5):c.1789A>G (p.Met597Val)
NM_006940.6(SOX5):c.1814A>C (p.Tyr605Ser)
NM_006940.6(SOX5):c.1814A>G (p.Tyr605Cys)
NM_006940.6(SOX5):c.1819G>T (p.Glu607Ter)
NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys)
NM_006940.6(SOX5):c.1895C>A (p.Thr632Asn) rs1135401816
NM_006940.6(SOX5):c.518G>A (p.Trp173Ter)
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.747_748del (p.Arg250fs) rs1555301854
NM_006940.6(SOX5):c.820C>T (p.Gln274Ter)

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