ClinVar Miner

List of variants in gene SOX5 studied for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006940.6(SOX5):c.703C>T (p.Arg235Cys) rs780207349 0.00003
NM_006940.6(SOX5):c.2078C>T (p.Ser693Leu) rs1463087817 0.00001
NM_006940.4:c.1489-7709_1771+1399del
NM_006940.6(SOX5):c.1628A>G (p.Tyr543Cys)
NM_006940.6(SOX5):c.1712G>T (p.Arg571Leu) rs773832380
NM_006940.6(SOX5):c.1895C>A (p.Thr632Asn) rs1135401816
NM_006940.6(SOX5):c.559G>T (p.Glu187Ter) rs1420871345
NM_006940.6(SOX5):c.928T>A (p.Cys310Ser) rs1593089328

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