List of variants in gene SOX5 reported as uncertain significance 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: 33

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HGVS	dbSNP	gnomAD frequency
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
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.1075G>A (p.Gly359Ser)	rs754590341
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.1856A>G (p.Lys619Arg)	rs1341736288
NM_006940.6(SOX5):c.1864G>A (p.Asp622Asn)
NM_006940.6(SOX5):c.211T>C (p.Ser71Pro)	rs2097171827
NM_006940.6(SOX5):c.2149G>A (p.Gly717Arg)
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.353G>T (p.Arg118Leu)	rs1217393451
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.692T>C (p.Ile231Thr)
NM_006940.6(SOX5):c.693T>G (p.Ile231Met)
NM_006940.6(SOX5):c.798G>T (p.Gln266His)	rs2093521806
NM_006940.6(SOX5):c.913A>G (p.Ser305Gly)
NM_006940.6(SOX5):c.914G>A (p.Ser305Asn)
NM_006940.6(SOX5):c.938C>T (p.Pro313Leu)
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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