ClinVar Miner

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

Included ClinVar conditions (587):
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Gene type:
ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
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.4396T>C (p.Phe1466Leu) rs151310601 0.00089
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.3940A>G (p.Met1314Val) rs764249439 0.00011
NM_001267550.2(TTN):c.4261C>T (p.Arg1421Trp) rs144672482 0.00011
NM_001267550.2(TTN):c.4668G>A (p.Pro1556=) rs145709534 0.00011
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser) rs144609506 0.00010
NM_001267550.2(TTN):c.4228G>C (p.Val1410Leu) rs576593161 0.00010
NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu) rs145308734 0.00007
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr) rs140760859 0.00005
NM_001267550.2(TTN):c.4321C>T (p.Arg1441Cys) rs146241078 0.00005
NM_001267550.2(TTN):c.4087A>G (p.Thr1363Ala) rs768249663 0.00004
NM_001267550.2(TTN):c.4274C>T (p.Ala1425Val) rs746063269 0.00004
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp) rs199889888 0.00003
NM_001267550.2(TTN):c.4532G>A (p.Gly1511Asp) rs751606948 0.00003
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His) rs761402128 0.00002
NM_001267550.2(TTN):c.4072G>T (p.Asp1358Tyr) rs373988162 0.00002
NM_001267550.2(TTN):c.4337C>A (p.Thr1446Lys) rs879232192 0.00002
NM_001267550.2(TTN):c.4639G>A (p.Val1547Met) rs750678272 0.00002
NM_001267550.2(TTN):c.3868G>A (p.Glu1290Lys) rs748755381 0.00001
NM_001267550.2(TTN):c.4031A>G (p.Asp1344Gly) rs1203373476 0.00001
NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly) rs370978752 0.00001
NM_001267550.2(TTN):c.4169C>T (p.Pro1390Leu) rs144011561 0.00001
NM_001267550.2(TTN):c.4292G>A (p.Arg1431Gln) rs373690688 0.00001
NM_001267550.2(TTN):c.4309A>G (p.Met1437Val) rs758098952 0.00001
NM_001267550.2(TTN):c.4310T>A (p.Met1437Lys) rs1018666766 0.00001
NM_001267550.2(TTN):c.4373T>G (p.Val1458Gly) rs1164246536 0.00001
NM_001267550.2(TTN):c.4453A>G (p.Met1485Val) rs753632784 0.00001
NM_001267550.2(TTN):c.4480G>A (p.Gly1494Ser) rs774506028 0.00001
NM_001267550.2(TTN):c.4558G>A (p.Ala1520Thr) rs1060500440 0.00001
NM_001267550.2(TTN):c.4649T>C (p.Val1550Ala) rs765557850 0.00001
NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr) rs145957227 0.00001
NM_001267550.2(TTN):c.4784T>G (p.Ile1595Ser) rs1012905833 0.00001
NM_001267550.2(TTN):c.4874C>G (p.Ser1625Cys) rs185789611 0.00001
NM_001267550.2(TTN):c.4903A>G (p.Lys1635Glu) rs776274777 0.00001
NM_001267550.2(TTN):c.3736C>A (p.His1246Asn) rs1554012975
NM_001267550.2(TTN):c.3854A>T (p.Glu1285Val) rs1554012705
NM_001267550.2(TTN):c.3926C>T (p.Thr1309Ile)
NM_001267550.2(TTN):c.3963+3A>G rs2092547968
NM_001267550.2(TTN):c.3963+5A>C
NM_001267550.2(TTN):c.3972G>C (p.Trp1324Cys)
NM_001267550.2(TTN):c.4017G>C (p.Met1339Ile) rs1561323191
NM_001267550.2(TTN):c.4057GTT[1] (p.Val1354del) rs878854304
NM_001267550.2(TTN):c.4085A>G (p.Tyr1362Cys) rs965997128
NM_001267550.2(TTN):c.4102A>C (p.Asn1368His) rs1377114122
NM_001267550.2(TTN):c.4126T>C (p.Ser1376Pro) rs1060500425
NM_001267550.2(TTN):c.4157C>T (p.Pro1386Leu)
NM_001267550.2(TTN):c.4195G>T (p.Val1399Leu) rs1554011657
NM_001267550.2(TTN):c.4270C>T (p.Pro1424Ser) rs772479207
NM_001267550.2(TTN):c.4319G>T (p.Gly1440Val) rs150579194
NM_001267550.2(TTN):c.4322G>A (p.Arg1441His) rs72647876
NM_001267550.2(TTN):c.4480G>T (p.Gly1494Cys)
NM_001267550.2(TTN):c.4506C>T (p.Thr1502=) rs185660585
NM_001267550.2(TTN):c.4621A>G (p.Ile1541Val) rs1060500580
NM_001267550.2(TTN):c.4646-5T>A rs750400475
NM_001267550.2(TTN):c.4651G>A (p.Glu1551Lys) rs762008835
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.4766G>A (p.Trp1589Ter)
NM_001267550.2(TTN):c.4814+3A>C rs567197047
NM_001267550.2(TTN):c.4814+5G>A
NM_001267550.2(TTN):c.4814+6T>C

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