ClinVar Miner

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

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 9
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NM_006642.5(SDCCAG8):c.1339dup (p.Glu447fs) rs387906218
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs) rs397515335
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.696del (p.Thr231_Tyr232insTer)
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337

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