ClinVar Miner

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
NM_000152.5(GAA):c.2499_2500CA[1] (p.Thr834fs) rs886043343
NM_000299.3(PKP1):c.841C>T (p.Gln281Ter) rs1553275192
NM_001039141.3(TRIOBP):c.3143_3144AG[1] (p.Glu1048_Ser1049insTer) rs1555896285
NM_001079878.2(CNGA3):c.130_151dup (p.Ala51fs) rs1558811557
NM_001130987.2(DYSF):c.3085+1G>T rs1553555585
NM_001942.4(DSG1):c.133C>T (p.Arg45Ter) rs1182196436
NM_002772.3(TMPRSS15):c.151_155del (p.Ala51fs) rs1555909961
NM_003673.3(TCAP):c.34dup (p.Glu12fs) rs1555606959
NM_004006.2(DMD):c.2292+2T>G rs1557396600
NM_004006.2(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_014625.3(NPHS2):c.156del (p.Thr53fs) rs1272948499
NM_016373.4(WWOX):c.791+1G>A rs1164465811
NM_021998.5(ZNF711):c.1239dup (p.Tyr414fs) rs1555974716
NM_173591.3(OTOGL):c.5000C>G (p.Ser1667Ter) rs1477766714

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