ClinVar Miner

List of variants in gene combination LOC126806423, TTN reported as uncertain significance for Cardiovascular phenotype

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) rs374492812 0.00011
NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln) rs200146608 0.00010
NM_001267550.2(TTN):c.67808C>T (p.Ala22603Val) rs199583938 0.00010
NM_001267550.2(TTN):c.68225-5T>C rs758273663 0.00009
NM_001267550.2(TTN):c.67882G>A (p.Val22628Ile) rs775731759 0.00004
NM_001267550.2(TTN):c.67496G>A (p.Arg22499Gln) rs767993624 0.00002
NM_001267550.2(TTN):c.67792A>C (p.Ser22598Arg) rs775579156 0.00002
NM_001267550.2(TTN):c.67788A>G (p.Arg22596=) rs1326950042 0.00001
NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met) rs758700425 0.00001
NM_001267550.2(TTN):c.68083G>A (p.Ala22695Thr) rs767279296 0.00001
NM_001267550.2(TTN):c.67445G>T (p.Arg22482Leu)
NM_001267550.2(TTN):c.67462G>A (p.Val22488Ile) rs1553622498
NM_001267550.2(TTN):c.67495C>G (p.Arg22499Gly) rs574660186
NM_001267550.2(TTN):c.67503G>A (p.Met22501Ile)
NM_001267550.2(TTN):c.67615G>A (p.Val22539Ile)
NM_001267550.2(TTN):c.67637-1G>T
NM_001267550.2(TTN):c.67660G>C (p.Gly22554Arg) rs769525101
NM_001267550.2(TTN):c.67741T>A (p.Ser22581Thr)
NM_001267550.2(TTN):c.67918G>A (p.Val22640Ile) rs750093105
NM_001267550.2(TTN):c.67926C>T (p.Gly22642=)
NM_001267550.2(TTN):c.68003C>A (p.Pro22668Gln)
NM_001267550.2(TTN):c.68048A>G (p.Lys22683Arg)
NM_001267550.2(TTN):c.68064CAA[1] (p.Asn22689del)
NM_001267550.2(TTN):c.68074G>T (p.Val22692Leu)
NM_001267550.2(TTN):c.68092G>T (p.Val22698Phe)
NM_001267550.2(TTN):c.68137G>A (p.Glu22713Lys) rs895744220
NM_001267550.2(TTN):c.68224+5G>A
NM_001267550.2(TTN):c.68260G>A (p.Asp22754Asn)

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