ClinVar Miner

List of variants in gene combination LOC126806421, TTN reported as uncertain significance for skeletal muscle disorder

Included ClinVar conditions (626):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.96501T>C (p.Ser32167=) rs139223781 0.00251
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=) rs72648266 0.00064
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=) rs376532382 0.00018
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=) rs369626133 0.00018
NM_001267550.2(TTN):c.96928A>C (p.Thr32310Pro) rs542208825 0.00018
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln) rs374063064 0.00014
NM_001267550.2(TTN):c.96904+4T>C rs373514079 0.00014
NM_001267550.2(TTN):c.96172C>T (p.Arg32058Trp) rs201463708 0.00008
NM_001267550.2(TTN):c.96424G>A (p.Val32142Ile) rs779663332 0.00006
NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn) rs764561909 0.00006
NM_001267550.2(TTN):c.96182T>C (p.Ile32061Thr) rs376202976 0.00005
NM_001267550.2(TTN):c.96286G>A (p.Ala32096Thr) rs376039623 0.00005
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met) rs375640847 0.00004
NM_001267550.2(TTN):c.96230G>A (p.Arg32077Gln) rs369835255 0.00004
NM_001267550.2(TTN):c.96310+4A>T rs781222763 0.00004
NM_001267550.2(TTN):c.96198C>G (p.Ser32066Arg) rs747323263 0.00003
NM_001267550.2(TTN):c.96434G>A (p.Arg32145His) rs759948951 0.00003
NM_001267550.2(TTN):c.96644C>G (p.Thr32215Ser) rs975713554 0.00003
NM_001267550.2(TTN):c.96934C>T (p.Pro32312Ser) rs1024823449 0.00003
NM_001267550.2(TTN):c.96604G>T (p.Val32202Leu) rs755717335 0.00002
NM_001267550.2(TTN):c.96718G>A (p.Glu32240Lys) rs374598326 0.00002
NM_001267550.2(TTN):c.96422T>A (p.Ile32141Asn) rs753559586 0.00001
NM_001267550.2(TTN):c.96462A>G (p.Thr32154=) rs776263585 0.00001
NM_001267550.2(TTN):c.96592C>G (p.Leu32198Val) rs752075170 0.00001
NM_001267550.2(TTN):c.96685G>A (p.Asp32229Asn) rs770101398 0.00001
NM_001267550.2(TTN):c.96698G>A (p.Arg32233Gln) rs755082341 0.00001
NM_001267550.2(TTN):c.96715C>T (p.Leu32239Phe) rs889392294 0.00001
NM_001267550.2(TTN):c.96782A>G (p.Glu32261Gly) rs1060500578 0.00001
NM_001267550.2(TTN):c.96931A>G (p.Met32311Val) rs727504981 0.00001
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) rs200540781
NM_001267550.2(TTN):c.96235G>C (p.Asp32079His) rs200540781
NM_001267550.2(TTN):c.96303_96310+4del
NM_001267550.2(TTN):c.96378G>C (p.Trp32126Cys) rs794729542
NM_001267550.2(TTN):c.96392T>C (p.Ile32131Thr) rs978818932
NM_001267550.2(TTN):c.96406C>T (p.Pro32136Ser) rs1553518099
NM_001267550.2(TTN):c.96445A>G (p.Met32149Val) rs972033083
NM_001267550.2(TTN):c.96491A>G (p.Tyr32164Cys) rs886055229
NM_001267550.2(TTN):c.96506T>C (p.Leu32169Pro) rs2154143527
NM_001267550.2(TTN):c.96563G>A (p.Gly32188Glu)
NM_001267550.2(TTN):c.96676C>A (p.Pro32226Thr) rs1060500595
NM_001267550.2(TTN):c.96743G>A (p.Arg32248Lys) rs967418486
NM_001267550.2(TTN):c.96868G>A (p.Glu32290Lys) rs1060500512
NM_001267550.2(TTN):c.96887C>T (p.Thr32296Ile) rs773279450
NM_001267550.2(TTN):c.96901del (p.Arg32301fs)
NM_001267550.2(TTN):c.96904G>A (p.Val32302Met) rs1339368168

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