List of variants reported as pathogenic for autosomal recessive disease by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.22del (p.His8fs)
NM_000231.3(SGCG):c.128T>A (p.Leu43Ter)	rs2137501447
NM_000382.3(ALDH3A2):c.50C>A (p.Ser17Ter)	rs1447023449
NM_000492.4(CFTR):c.2994del (p.Leu998fs)	rs749963273
NM_001130987.2(DYSF):c.147+1G>A	rs2082833010
NM_001130987.2(DYSF):c.5405del (p.Glu1802fs)	rs2095035479
NM_001130987.2(DYSF):c.5680_5681insC (p.Asp1894fs)
NM_006019.4(TCIRG1):c.553del (p.Leu185fs)	rs1855280375
NM_006329.4(FBLN5):c.1134T>G (p.Tyr378Ter)	rs746506432
NM_015046.7(SETX):c.719G>A (p.Gly240Asp)	rs1589757407
NM_016239.4(MYO15A):c.488C>A (p.Ser163Ter)	rs773729617
NM_020632.3(ATP6V0A4):c.1510C>T (p.Gln504Ter)
NM_194248.3(OTOF):c.5788G>T (p.Glu1930Ter)	rs953404925

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