ClinVar Miner

List of variants in gene combination LOC126806420, TTN reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869 0.02155
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=) rs56026369 0.00099
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys) rs72648278 0.00038
NM_001267550.2(TTN):c.99866-10C>T rs773128928 0.00029
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641 0.00022
NM_001267550.2(TTN):c.99946G>A (p.Ala33316Thr) rs374295768 0.00015
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys) rs775769503 0.00012
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) rs201112096 0.00011
NM_001267550.2(TTN):c.99982G>A (p.Val33328Met) rs372302484 0.00011
NM_001267550.2(TTN):c.100284C>T (p.Tyr33428=) rs1440086089 0.00003
NM_001267550.2(TTN):c.100020A>G (p.Gln33340=) rs375614764 0.00001
NM_001267550.2(TTN):c.99900C>T (p.Ile33300=) rs747130957 0.00001
NM_001267550.2(TTN):c.99927G>C (p.Val33309=) rs752424641 0.00001
NM_001267550.2(TTN):c.99990A>G (p.Lys33330=) rs749702063 0.00001
NM_001267550.2(TTN):c.100119C>T (p.Gly33373=) rs2468650757
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.100228G>A (p.Val33410Ile) rs1691577355
NM_001267550.2(TTN):c.100244C>T (p.Pro33415Leu) rs72648282
NM_001267550.2(TTN):c.99658T>C (p.Tyr33220His)
NM_001267550.2(TTN):c.99874del (p.Asp33292fs) rs2468661992

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