List of variants reported as pathogenic for autosomal recessive disease by Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001130987.2(DYSF):c.1380+2T>C	rs398123765	0.00002
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)	rs121908098	0.00001
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)	rs28937581	0.00001
NM_000070.3(CAPN3):c.1118G>A (p.Trp373Ter)	rs1555421523
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs)	rs80338803
NM_000382.3(ALDH3A2):c.1291_1292del (p.Lys431fs)	rs781059624
NM_000382.3(ALDH3A2):c.1309A>T (p.Lys437Ter)	rs1567607328
NM_001267550.2(TTN):c.29963-1G>C	rs1560513651
NM_001267550.2(TTN):c.92812dup (p.Arg30938fs)	rs1559173391
NM_213599.3(ANO5):c.1158del (p.Phe386fs)	rs1564936489

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