ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_006757.4(TNNT3):c.83-48A>G rs629990 0.81000
NM_006757.4(TNNT3):c.107-115T>C rs2292471 0.80994
NM_006757.4(TNNT3):c.681+63T>C rs513735 0.79566
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.107-134T>G rs2292473
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.299G>A (p.Arg100His)
NM_006757.4(TNNT3):c.37T>C (p.Tyr13His)
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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