List of variants reported as uncertain significance by Institute for Human Genetics, University Hospital Essen

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Total variants: 11

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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_006950.3(SYN1):c.340A>G (p.Arg114Gly)	rs760804604	0.00001
NM_006940.6(SOX5):c.1895C>A (p.Thr632Asn)	rs1135401816
NM_006940.6(SOX5):c.928T>A (p.Cys310Ser)	rs1593089328
NM_006950.3(SYN1):c.1072G>A (p.Asp358Asn)
NM_006950.3(SYN1):c.1121C>T (p.Ala374Val)
NM_006950.3(SYN1):c.614T>A (p.Leu205Gln)	rs2057892972
NM_006950.3(SYN1):c.614_616dup (p.Leu205_Gln206insLeu)
NM_006950.3(SYN1):c.774G>T (p.Met258Ile)
NM_015557.3(CHD5):c.815C>T (p.Ala272Val)	rs2100866749

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