List of variants in gene SOX5 reported as pathogenic for syndrome caused by partial chromosomal deletion

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
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.1060G>T (p.Gly354Ter)	rs869025321
NM_006940.6(SOX5):c.1136del (p.Ser379fs)
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.1678A>G (p.Met560Val)	rs1591908609
NM_006940.6(SOX5):c.1681A>C (p.Asn561His)	rs1591908568
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp)	rs1565669640
NM_006940.6(SOX5):c.1712G>A (p.Arg571Gln)
NM_006940.6(SOX5):c.1782G>A (p.Trp594Ter)	rs1591833842
NM_006940.6(SOX5):c.1807C>T (p.Gln603Ter)	rs2135894892
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.1862del (p.Pro621fs)
NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys)	rs1591833159
NM_006940.6(SOX5):c.352C>T (p.Arg118Ter)	rs2136047948
NM_006940.6(SOX5):c.405dup (p.Lys136fs)	rs2096571436
NM_006940.6(SOX5):c.433dup (p.Thr145fs)	rs2136046122
NM_006940.6(SOX5):c.518G>A (p.Trp173Ter)	rs1594078334
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.755dup (p.Gln253fs)	rs2140907114
NM_006940.6(SOX5):c.820C>T (p.Gln274Ter)	rs1593090725
NM_006940.6(SOX5):c.959del (p.Pro320fs)	rs2079966010

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