ClinVar Miner

List of variants in gene LOC126806424, TTN studied for autosomal dominant distal myopathy

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406 0.13367
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys) rs201487340 0.00458
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu) rs72646840 0.00274
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842 0.00098
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=) rs188063446 0.00060
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608 0.00047
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=) rs367622770 0.00039
NM_001267550.2(TTN):c.59344+3G>A rs142095604 0.00023
NM_001267550.2(TTN):c.59489A>G (p.Lys19830Arg) rs764259290 0.00011
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile) rs369476725 0.00010
NM_001267550.2(TTN):c.59573C>T (p.Thr19858Ile) rs757911359 0.00008
NM_001267550.2(TTN):c.59341C>T (p.Leu19781Phe) rs555577161 0.00006
NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr) rs376465623 0.00006
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=) rs767152563 0.00006
NM_001267550.2(TTN):c.59813C>T (p.Ala19938Val) rs1187337182 0.00005
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr) rs727503588 0.00005
NM_001267550.2(TTN):c.59534G>A (p.Arg19845His) rs201457934 0.00002
NM_001267550.2(TTN):c.60003G>A (p.Pro20001=) rs753118050 0.00002
NM_001267550.2(TTN):c.59711A>G (p.Asp19904Gly) rs1016296280 0.00001
NM_001267550.2(TTN):c.59912C>T (p.Ala19971Val) rs886055258 0.00001
NM_001267550.2(TTN):c.60027C>T (p.Ile20009=) rs368279024 0.00001
NM_001267550.2(TTN):c.60033A>C (p.Gly20011=) rs761455000 0.00001
NM_001267550.2(TTN):c.60195C>A (p.Ile20065=) rs990501984 0.00001
NM_001267550.2(TTN):c.59570T>C (p.Leu19857Ser) rs547180437
NM_001267550.2(TTN):c.59707G>A (p.Asp19903Asn) rs374163882
NM_001267550.2(TTN):c.60050AAG[2] (p.Glu20019del) rs886055257
NM_001267550.2(TTN):c.60192T>C (p.Thr20064=) rs1215674180

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