ClinVar Miner

List of variants in gene TNNT3 studied for Sheldon-hall syndrome

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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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.762C>T (p.Gly254=) rs4727 0.12344
NM_006757.4(TNNT3):c.636T>C (p.Ile212=) rs16927166 0.03978
NM_006757.4(TNNT3):c.367-9T>C rs76471485 0.00859
NM_006757.4(TNNT3):c.*36C>T rs147535560 0.00188
NM_006757.4(TNNT3):c.480+10G>T rs188255267 0.00143
NM_006757.4(TNNT3):c.*151G>A rs544425439 0.00003
NM_006757.4(TNNT3):c.*86C>T rs200540491 0.00003
NM_006757.4(TNNT3):c.*57C>T rs772512169 0.00001
NM_006757.4(TNNT3):c.257A>G (p.Glu86Gly) rs755143093 0.00001
NM_006757.4(TNNT3):c.504G>A (p.Lys168=) rs1367784766 0.00001
NM_006757.4(TNNT3):c.*62G>T rs886048105
NM_006757.4(TNNT3):c.-22G>T rs879755445
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.464G>A (p.Ser155Asn) rs1854343743
NM_006757.4(TNNT3):c.480+8C>T rs370243709
NM_006757.4(TNNT3):c.491A>G (p.Lys164Arg) rs1161353535
NM_006757.4(TNNT3):c.496G>A (p.Gly166Ser) rs775584381
NM_006757.4(TNNT3):c.524AGA[2] (p.Lys177del) rs765275660
NM_006757.4(TNNT3):c.591-12C>T rs1854492172
NM_006757.4(TNNT3):c.668G>C (p.Arg223Pro) rs766691409
NM_006757.4(TNNT3):c.723-2A>G rs1855785074
NM_006757.4(TNNT3):c.757G>C (p.Val253Leu) rs1855793483

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