ClinVar Miner

List of variants in gene LOC126806426, TTN studied for autosomal dominant distal myopathy

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=) rs72677244 0.03561
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242 0.00641
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00094
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827 0.00013
NM_001267550.2(TTN):c.49070C>T (p.Ala16357Val) rs199768159 0.00009
NM_001267550.2(TTN):c.49000G>A (p.Val16334Met) rs541384076 0.00008
NM_001267550.2(TTN):c.48751G>A (p.Asp16251Asn) rs199954570 0.00006
NM_001267550.2(TTN):c.48838G>A (p.Ala16280Thr) rs372911542 0.00006
NM_001267550.2(TTN):c.49008G>A (p.Val16336=) rs781078888 0.00004
NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=) rs376188859 0.00004
NM_001267550.2(TTN):c.49126C>T (p.Arg16376Cys) rs772152172 0.00001
NM_001267550.2(TTN):c.48671G>C (p.Trp16224Ser) rs886055270
NM_001267550.2(TTN):c.48760+8T>C rs2057012531
NM_001267550.2(TTN):c.48850G>A (p.Gly16284Arg) rs368527534
NM_001267550.2(TTN):c.49183A>G (p.Ser16395Gly) rs2056873203
NM_001267550.2(TTN):c.49211C>T (p.Thr16404Ile) rs2056867382
NM_001267550.2(TTN):c.49265T>C (p.Ile16422Thr) rs746167353

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