List of variants reported as pathogenic for skeletal muscle disorder by GeniaGeo, Laboratorio Genia

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000231.3(SGCG):c.333del (p.Thr112fs)	rs1593197637
NM_001130987.2(DYSF):c.1000del (p.Arg334fs)	rs1573671276
NM_001130987.2(DYSF):c.4216G>T (p.Glu1406Ter)	rs866823474
NM_001130987.2(DYSF):c.5516_5517dup (p.Phe1840fs)	rs1558783870
NM_001130987.2(DYSF):c.5850G>A (p.Trp1950Ter)	rs1573138336
NM_024301.5(FKRP):c.960_970del (p.Ala321fs)	rs1599937963
NM_213599.3(ANO5):c.1359C>G (p.Tyr453Ter)	rs754889480
NM_213599.3(ANO5):c.1755T>A (p.Tyr585Ter)	rs1364860348

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