List of variants reported as pathogenic for limb-girdle muscular dystrophy by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	rs28937900	0.00103
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)	rs28933693	0.00046
NM_000023.4(SGCA):c.739G>A (p.Val247Met)	rs143570936	0.00019
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)	rs143031195	0.00011
NM_021942.6(TRAPPC11):c.1287+5G>A	rs397509418	0.00004
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)	rs746243052	0.00001
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe)	rs121908458	0.00001
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn)	rs111033570	0.00001
NM_000070.3(CAPN3):c.550del (p.Thr184fs)	rs80338800
NM_000426.4(LAMA2):c.4533del (p.Gly1512fs)	rs1776950897
NM_024301.5(FKRP):c.941C>T (p.Thr314Met)	rs398124395
NM_058246.4(DNAJB6):c.279C>G (p.Phe93Leu)	rs149278319
NM_213599.3(ANO5):c.191dup (p.Asn64fs)	rs137854521

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