List of variants reported as pathogenic by GeniaGeo, Laboratorio Genia

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000231.3(SGCG):c.333del (p.Thr112fs)	rs1593197637
NM_000492.4(CFTR):c.274-5_274-2del	rs1584784850
NM_000492.4(CFTR):c.3972del (p.Arg1325fs)	rs1584848754
NM_000492.4(CFTR):c.544dup (p.Ser182fs)	rs1584786454
NM_000492.4(CFTR):c.930del (p.Phe311fs)	rs1584789226
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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