ClinVar Miner

List of variants in gene combination LOC101927055, TTN reported as likely pathogenic for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.3732del (p.Glu1244fs)
NM_001267550.2(TTN):c.3758_3759del (p.Arg1253fs)
NM_001267550.2(TTN):c.3769G>T (p.Glu1257Ter)
NM_001267550.2(TTN):c.3800T>A (p.Leu1267Ter)
NM_001267550.2(TTN):c.3817G>T (p.Glu1273Ter) rs2154347744
NM_001267550.2(TTN):c.3829G>T (p.Glu1277Ter)
NM_001267550.2(TTN):c.3831_3835del (p.Glu1277fs) rs1060500558
NM_001267550.2(TTN):c.3838del (p.Ala1280fs)
NM_001267550.2(TTN):c.3864del (p.Val1289fs) rs2154347714
NM_001267550.2(TTN):c.3963+1G>T rs1561325112
NM_001267550.2(TTN):c.3972G>A (p.Trp1324Ter) rs1561323791
NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter) rs727503697
NM_001267550.2(TTN):c.4057_4058del (p.Val1353fs)
NM_001267550.2(TTN):c.4216_4219del (p.Ser1406fs) rs2154346896
NM_001267550.2(TTN):c.4218_4219del (p.Pro1407fs)
NM_001267550.2(TTN):c.4293del (p.Met1432fs)
NM_001267550.2(TTN):c.4301del (p.Pro1434fs)
NM_001267550.2(TTN):c.4330del (p.Glu1444fs)
NM_001267550.2(TTN):c.4385_4386delinsG (p.Lys1462fs) rs2092387027
NM_001267550.2(TTN):c.4413del (p.Gln1472fs) rs2092384255
NM_001267550.2(TTN):c.4480+1G>A rs766581255
NM_001267550.2(TTN):c.4480+1G>T rs766581255
NM_001267550.2(TTN):c.4537C>T (p.Gln1513Ter) rs2092360420
NM_001267550.2(TTN):c.4592_4596del (p.Val1531fs) rs1131691910
NM_001267550.2(TTN):c.4607C>T (p.Ala1536Val)
NM_001267550.2(TTN):c.4642G>T (p.Glu1548Ter)
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.4834G>T (p.Glu1612Ter)
NM_001267550.2(TTN):c.4880G>A (p.Trp1627Ter) rs767755367
NM_001267550.2(TTN):c.4910del (p.Gly1637fs) rs886044013

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