List of variants reported as likely pathogenic by Tehran Medical Genetics Laboratory

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001942.4(DSG1):c.133C>T (p.Arg45Ter)	rs1182196436	0.00001
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs)	rs886043343
NM_001005337.3(PKP1):c.841C>T (p.Gln281Ter)	rs1553275192
NM_001039141.3(TRIOBP):c.3145_3146del (p.Glu1048_Ser1049insTer)	rs1555896285
NM_001130987.2(DYSF):c.3085+1G>T	rs1553555585
NM_001298.3(CNGA3):c.130_151dup (p.Ala51fs)	rs1558811557
NM_001330574.2(ZNF711):c.1377dup (p.Tyr460fs)	rs1555974716
NM_001378609.3(OTOGL):c.5027C>G (p.Ser1676Ter)	rs1477766714
NM_002772.3(TMPRSS15):c.151_155del (p.Ala51fs)	rs1555909961
NM_003673.4(TCAP):c.34dup (p.Glu12fs)	rs1555606959
NM_004006.3(DMD):c.2292+2T>G	rs1557396600
NM_004006.3(DMD):c.7085_7088dup (p.Asp2364fs)	rs1556962271
NM_004056.6(CA8):c.475A>T (p.Lys159Ter)	rs79267946
NM_006493.4(CLN5):c.675G>A (p.Trp225Ter)	rs1555274338
NM_014625.4(NPHS2):c.156del (p.Thr53fs)	rs1272948499
NM_016373.4(WWOX):c.791+1G>A	rs1164465811

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