ClinVar Miner

List of variants reported as pathogenic for Spinal muscular atrophy, distal, autosomal recessive, 6 by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001371279.1(REEP1):c.124T>C (p.Trp42Arg)
NM_001371279.1(REEP1):c.248del (p.Gly83fs)	rs2104244539
NM_001371279.1(REEP1):c.303+1_303+7delinsAC	rs869320621

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