List of variants reported as pathogenic for Senior-Loken syndrome 7

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_006642.5(SDCCAG8):c.740+356C>T	rs397515337	0.00006
NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter)	rs797045947	0.00001
NM_006642.5(SDCCAG8):c.1324dup (p.Gln442fs)	rs747911477
NM_006642.5(SDCCAG8):c.1339dup (p.Glu447fs)	rs387906218
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs)	rs397515335
NM_006642.5(SDCCAG8):c.1946_1949del (p.Cys649fs)	rs397515336
NM_006642.5(SDCCAG8):c.221-2A>G	rs797045946
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter)	rs797045948

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