ClinVar Miner

List of variants studied for Senior-Loken syndrome 7

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Total variants: 11
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NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp) rs2275155
NM_006642.5(SDCCAG8):c.1339dup (p.Glu447fs) rs387906218
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs) rs397515335
NM_006642.5(SDCCAG8):c.1575del (p.Glu526fs) rs1390963789
NM_006642.5(SDCCAG8):c.1725G>A (p.Glu575=) rs10927011
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val) rs776765317
NM_006642.5(SDCCAG8):c.1944_1945GT[1] (p.Cys649fs) rs397515336
NM_006642.5(SDCCAG8):c.221-2A>G rs797045946
NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter) rs797045947
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter) rs797045948
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337

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