ClinVar Miner

List of variants in gene TNNT3 studied for Arthrogryposis, distal, type 2B2

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_006757.4(TNNT3):c.107-115T>C rs2292471 0.80913
NM_006757.4(TNNT3):c.83-48A>G rs629990 0.80906
NM_006757.4(TNNT3):c.681+63T>C rs513735 0.79341
NM_006757.4(TNNT3):c.32-149A>T rs2734500 0.76033
NM_006757.4(TNNT3):c.18-76A>G rs965912 0.73230
NM_006757.4(TNNT3):c.667C>T (p.Arg223Cys) rs367658497 0.00003
NM_006757.4(TNNT3):c.299G>A (p.Arg100His) rs1208387518 0.00001
NM_006757.4(TNNT3):c.107-134T>G rs2292473
NM_006757.4(TNNT3):c.13G>T (p.Glu5Ter)
NM_006757.4(TNNT3):c.176T>C (p.Ile59Thr) rs2133451032
NM_006757.4(TNNT3):c.187C>A (p.Arg63Ser) rs199474721
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys) rs199474721
NM_006757.4(TNNT3):c.188G>A (p.Arg63His) rs121434638
NM_006757.4(TNNT3):c.37T>C (p.Tyr13His) rs2494361649
NM_006757.4(TNNT3):c.464G>A (p.Ser155Asn) rs1854343743
NM_006757.4(TNNT3):c.524AGA[2] (p.Lys177del) rs765275660
NM_006757.4(TNNT3):c.723-2A>G rs1855785074

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