ClinVar Miner

List of variants in gene combination LOC101927055, TTN reported by Eurofins NTD LLC (GA)

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.3884C>T (p.Ser1295Leu) rs1552280 0.94745
NM_001267550.2(TTN):c.4480+6C>T rs719201 0.94227
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr) rs138506461 0.00219
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580 0.00188
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile) rs139192633 0.00097
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_001267550.2(TTN):c.4208G>C (p.Arg1403Thr) rs531590921 0.00029
NM_001267550.2(TTN):c.4645+8G>T rs144456585 0.00029
NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp) rs139636676 0.00016
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu) rs374497665 0.00014
NM_001267550.2(TTN):c.3864T>G (p.Ala1288=) rs368702156 0.00010
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser) rs144609506 0.00010
NM_001267550.2(TTN):c.3813T>C (p.Leu1271=) rs773274762 0.00008
NM_001267550.2(TTN):c.4247G>A (p.Arg1416His) rs750278602 0.00006
NM_001267550.2(TTN):c.4284T>A (p.Ser1428=) rs771454835 0.00004
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp) rs199889888 0.00003
NM_001267550.2(TTN):c.4650G>A (p.Val1550=) rs915170239 0.00003
NM_001267550.2(TTN):c.3988C>T (p.Arg1330Cys) rs771294359 0.00002
NM_001267550.2(TTN):c.4362A>G (p.Leu1454=) rs794727406 0.00002
NM_001267550.2(TTN):c.3819A>C (p.Glu1273Asp) rs765443634 0.00001
NM_001267550.2(TTN):c.4098C>T (p.Ala1366=) rs760223250 0.00001
NM_001267550.2(TTN):c.4238C>G (p.Ser1413Cys) rs886042744 0.00001
NM_001267550.2(TTN):c.4310T>A (p.Met1437Lys) rs1018666766 0.00001
NM_001267550.2(TTN):c.4641G>T (p.Val1547=) rs1012929202 0.00001
NM_001267550.2(TTN):c.4837G>A (p.Ala1613Thr) rs757349504 0.00001
NM_001267550.2(TTN):c.3874G>T (p.Gly1292Ter) rs886042433
NM_001267550.2(TTN):c.4040C>G (p.Ala1347Gly) rs1561322862
NM_001267550.2(TTN):c.4206C>T (p.Ile1402=) rs1554011604
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.4592T>A (p.Val1531Asp) rs794727429
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.4852G>T (p.Asp1618Tyr) rs794727465
NM_001267550.2(TTN):c.4910del (p.Gly1637fs) rs886044013

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