ClinVar Miner

List of variants in gene combination LOC126806425, TTN reported as likely pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.52499_52504delinsAGTAA (p.Pro17500_Leu17502delinsGlnTer) rs1559748217
NM_001267550.2(TTN):c.52512C>G (p.Tyr17504Ter) rs1559748120
NM_001267550.2(TTN):c.52546del (p.Trp17516fs)
NM_001267550.2(TTN):c.52551del (p.Arg17518fs)
NM_001267550.2(TTN):c.52567del (p.Leu17523fs)
NM_001267550.2(TTN):c.52576_52603del (p.Asn17525_Ala17526insTer) rs1064792915
NM_001267550.2(TTN):c.52604T>G (p.Leu17535Ter)
NM_001267550.2(TTN):c.52619_52620del (p.Tyr17540fs)
NM_001267550.2(TTN):c.52694_52695del (p.His17565fs)
NM_001267550.2(TTN):c.52706-1G>C rs2055351447
NM_001267550.2(TTN):c.52706-1G>T
NM_001267550.2(TTN):c.52731_52732del (p.Arg17577fs) rs878854315
NM_001267550.2(TTN):c.52736del (p.Thr17579fs) rs2154197312
NM_001267550.2(TTN):c.52767dup (p.Trp17590fs) rs2154197298
NM_001267550.2(TTN):c.52778del (p.Pro17593fs)
NM_001267550.2(TTN):c.52801del (p.Ile17601fs) rs2154197283
NM_001267550.2(TTN):c.52825del (p.Gln17609fs) rs2055323171
NM_001267550.2(TTN):c.52847G>A (p.Trp17616Ter) rs2055319182
NM_001267550.2(TTN):c.52903C>T (p.Arg17635Ter) rs2154197219
NM_001267550.2(TTN):c.52924_52930dup (p.Val17644fs) rs2055292474
NM_001267550.2(TTN):c.52975C>T (p.Gln17659Ter) rs2154197188
NM_001267550.2(TTN):c.53003-1G>C rs2154197076
NM_001267550.2(TTN):c.53012_53030del (p.Ala17671fs)
NM_001267550.2(TTN):c.53026_53027del (p.Val17676fs)
NM_001267550.2(TTN):c.53041G>T (p.Gly17681Ter)
NM_001267550.2(TTN):c.53047C>T (p.Gln17683Ter) rs2154197059
NM_001267550.2(TTN):c.53068_53069del (p.Thr17689_Leu17690insTer) rs2154197040
NM_001267550.2(TTN):c.53182G>T (p.Glu17728Ter)
NM_001267550.2(TTN):c.53206C>T (p.Arg17736Ter) rs571702144
NM_001267550.2(TTN):c.53259del (p.Lys17753fs) rs1389777522
NM_001267550.2(TTN):c.53287+1G>A rs1064794266
NM_001267550.2(TTN):c.53315_53316del (p.Lys17772fs) rs2154196835
NM_001267550.2(TTN):c.53354G>A (p.Trp17785Ter)
NM_001267550.2(TTN):c.53359del (p.Asp17787fs) rs2055103568
NM_001267550.2(TTN):c.53374G>T (p.Gly17792Ter) rs2055101555

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