List of variants reported as pathogenic for hereditary skeletal muscle disorder by Undiagnosed Diseases Network, NIH

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Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	rs28937900	0.00103
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	rs142441643	0.00025
NM_001267550.2(TTN):c.39974-11T>G	rs758597536	0.00006
NM_005198.5(CHKB):c.151C>T (p.Gln51Ter)	rs373091820	0.00006
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn)	rs140614802	0.00003
NM_024854.5(PYROXD1):c.464A>G (p.Asn155Ser)	rs781565158	0.00002
NC_000023.11:g.64951692_65166933del
NC_012920.1(MT-TK):m.8344A>G	rs118192098
NC_012920.1(MT-TL1):m.3243A>G	rs199474657
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)	rs903823830
NM_000183.3(HADHB):c.1059del (p.Gly354fs)	rs796051974
NM_001100.4(ACTA1):c.79G>A (p.Asp27Asn)
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter)	rs543860009
NM_001267550.2(TTN):c.98994del (p.Lys32998fs)	rs727504535
NM_001848.3(COL6A1):c.930+189C>T	rs1556425596
NM_001927.4(DES):c.1255_1271del (p.Pro419fs)	rs1553603732
NM_004006.3(DMD):c.9564-30A>G
NM_004006.3(DMD):c.9974+175T>A	rs1602451773
NM_024301.5(FKRP):c.-272G>A	rs1555735545
NM_145868.2(ANXA11):c.118G>T (p.Asp40Tyr)	rs368751524
Single allele

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