List of variants reported as pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2B by Athena Diagnostics Inc

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)	rs746873768	0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs)	rs398123782	0.00001
NM_001130987.2(DYSF):c.1263_1276+1dup	rs863225019
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter)	rs369607332
NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer)	rs766341386
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)	rs786205084
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs)	rs398123797

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