List of variants reported as likely pathogenic for congenital myopathy by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	rs113994094	0.00159
NM_004369.4(COL6A3):c.6898G>A (p.Gly2300Arg)	rs763348222	0.00006
NM_001848.3(COL6A1):c.1945G>A (p.Glu649Lys)	rs764129993	0.00004
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val)	rs766488017	0.00004
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val)	rs730880761	0.00001
NM_000183.3(HADHB):c.901G>C (p.Gly301Arg)	rs891954464
NM_000540.3(RYR1):c.8446A>G (p.Met2816Val)	rs775492883
NM_001080449.3(DNA2):c.3014C>T (p.Thr1005Ile)	rs376624048
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs)	rs1344099907
NM_001267550.2(TTN):c.3487G>A (p.Gly1163Arg)	rs1554015228
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)	rs267606747
NM_001927.4(DES):c.1151A>G (p.His384Arg)	rs1553603566
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser)	rs755536829
NM_025215.6(PUS1):c.813del (p.Phe272fs)	rs1566148136
NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs)	rs1569172839

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