List of variants reported as pathogenic for hereditary skeletal muscle disorder by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	rs113994096	0.00160
NM_001164508.2(NEB):c.24114+1G>A	rs755239192	0.00009
NM_002206.3(ITGA7):c.427C>T (p.Arg143Ter)	rs17854600	0.00006
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)	rs398124119	0.00003
NM_182961.4(SYNE1):c.9208C>T (p.Arg3070Ter)	rs549779256	0.00002
NM_000023.4(SGCA):c.101G>A (p.Arg34His)	rs371675217	0.00001
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter)	rs1243779049	0.00001
NM_001130987.2(DYSF):c.2864+1G>A	rs199954546	0.00001
NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter)	rs1218073575	0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)	rs769827124	0.00001
NM_000231.3(SGCG):c.690T>A (p.Ser230Arg)	rs875989949
NM_000426.4(LAMA2):c.397-4_478del	rs1554217494
NM_000426.4(LAMA2):c.7452-1G>A	rs1554304931
NM_000426.4(LAMA2):c.8665G>A (p.Gly2889Arg)	rs886039896
NM_000540.3(RYR1):c.8159C>A (p.Ser2720Ter)	rs1568510406
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser)	rs119463996
NM_001101426.4(CRPPA):c.722del (p.Leu241fs)	rs1554320168
NM_001164508.2(NEB):c.6385C>T (p.Gln2129Ter)	rs80344795
NM_001267550.2(TTN):c.1771C>T (p.Gln591Ter)	rs747286444
NM_001267550.2(TTN):c.33826+1G>A	rs1389908421
NM_001267550.2(TTN):c.34922del (p.Pro11641fs)	rs1553809971
NM_001267550.2(TTN):c.70876G>T (p.Glu23626Ter)	rs1559446852
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)	rs121912938
NM_004006.3(DMD):c.3358G>T (p.Glu1120Ter)	rs1569563678
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter)	rs398123973
NM_005198.5(CHKB):c.382G>T (p.Glu128Ter)	rs1569054086
NM_152263.4(TPM3):c.503G>A (p.Arg168His)	rs121964852
NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter)	rs1554451078
NM_182961.4(SYNE1):c.23461-1G>A	rs1586909309

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