ClinVar Miner

List of variants in gene SPTAN1 reported as pathogenic by GeneDx

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Total variants: 5
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NM_001130438.3(SPTAN1):c.6605_6607del (p.Gln2202del) rs398122865
NM_001130438.3(SPTAN1):c.6616_6618GAG[1] (p.Glu2207del) rs587784438
NM_001130438.3(SPTAN1):c.6899_6907ACCAGCTGG[1] (p.2300_2302DQL[1]) rs587784440
NM_001130438.3(SPTAN1):c.6899_6907ACCAGCTGG[3] (p.2300_2302DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6917_6922GCATGC[3] (p.Arg2308_Met2309dup) rs796053335

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