ClinVar Miner

List of variants in gene combination LOC101927055, TTN reported as likely benign for Distal myopathy Markesbery-Griggs type

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Total variants: 11
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HGVS dbSNP
NM_001267550.2(TTN):c.3759A>G (p.Arg1253=) rs2291308
NM_001267550.2(TTN):c.3884C>T (p.Ser1295Leu) rs1552280
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=) rs55757622
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val) rs16866531
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=) rs719202
NM_001267550.2(TTN):c.4480+6C>T rs719201
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln) rs12476289

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