ClinVar Miner

List of variants in gene combination LOC126806426, 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: 21
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.48629del (p.Ala16210fs) rs2057135958
NM_001267550.2(TTN):c.48634del (p.Thr16212fs) rs2154205763
NM_001267550.2(TTN):c.48698dup (p.Asn16233fs) rs2057026455
NM_001267550.2(TTN):c.48759del (p.Glu16254fs) rs2057015875
NM_001267550.2(TTN):c.48760+1G>A
NM_001267550.2(TTN):c.48760+1G>C
NM_001267550.2(TTN):c.48760+1G>T
NM_001267550.2(TTN):c.48760+2T>C
NM_001267550.2(TTN):c.48760G>T (p.Glu16254Ter)
NM_001267550.2(TTN):c.48767dup (p.Glu16257fs)
NM_001267550.2(TTN):c.48808_48809del (p.Val16270fs)
NM_001267550.2(TTN):c.48832del (p.Leu16278fs)
NM_001267550.2(TTN):c.48913_48916dup (p.Thr16306fs)
NM_001267550.2(TTN):c.49004dup (p.Asn16335fs) rs1576461647
NM_001267550.2(TTN):c.49011_49012del (p.Cys16337fs)
NM_001267550.2(TTN):c.49048+1G>A
NM_001267550.2(TTN):c.49049-1G>C rs868064056
NM_001267550.2(TTN):c.49049-2A>C
NM_001267550.2(TTN):c.49101_49102del (p.Cys16368fs) rs1576457869
NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter) rs570046043
NM_001267550.2(TTN):c.49187_49191dup (p.Trp16398fs)

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