ClinVar Miner

List of variants in gene THOC2 reported as uncertain significance for Inborn genetic diseases

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001081550.2(THOC2):c.1240A>T (p.Asn414Tyr) rs1304440218 0.00005
NM_001081550.2(THOC2):c.1147A>G (p.Ile383Val) rs928293754 0.00001
NM_001081550.2(THOC2):c.1145C>A (p.Ala382Asp) rs2049081784
NM_001081550.2(THOC2):c.1166T>G (p.Ile389Arg)
NM_001081550.2(THOC2):c.1565G>A (p.Arg522His)
NM_001081550.2(THOC2):c.1759A>G (p.Ile587Val)
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys) rs1556302160
NM_001081550.2(THOC2):c.2672A>G (p.Asp891Gly) rs2047319309
NM_001081550.2(THOC2):c.2720A>G (p.Lys907Arg)
NM_001081550.2(THOC2):c.2942G>A (p.Cys981Tyr) rs1556017474
NM_001081550.2(THOC2):c.3242G>A (p.Gly1081Asp) rs1556015763
NM_001081550.2(THOC2):c.3535T>C (p.Tyr1179His)
NM_001081550.2(THOC2):c.3965C>T (p.Pro1322Leu)
NM_001081550.2(THOC2):c.4033A>G (p.Thr1345Ala)
NM_001081550.2(THOC2):c.4180C>T (p.Pro1394Ser)
NM_001081550.2(THOC2):c.4498C>T (p.Arg1500Cys)
NM_001081550.2(THOC2):c.658T>C (p.Cys220Arg)
NM_001081550.2(THOC2):c.996AGA[1] (p.Glu335del) rs2049123032

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