ClinVar Miner

List of variants in gene LOC126806423, TTN studied for Dilated cardiomyopathy 1G

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.68217T>C (p.His22739=) rs10497517 0.09829
NM_001267550.2(TTN):c.67635T>C (p.Val22545=) rs2288570 0.02106
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) rs11904444 0.00481
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876 0.00048
NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=) rs375538420 0.00027
NM_001267550.2(TTN):c.68082C>T (p.Cys22694=) rs79406408 0.00024
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=) rs72646877 0.00016
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) rs374492812 0.00011
NM_001267550.2(TTN):c.68208T>A (p.Val22736=) rs727503575 0.00006
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186 0.00004
NM_001267550.2(TTN):c.67643C>T (p.Pro22548Leu) rs763002536 0.00004
NM_001267550.2(TTN):c.67809G>A (p.Ala22603=) rs548223512 0.00002
NM_001267550.2(TTN):c.67960G>C (p.Asp22654His) rs144295295 0.00001
NM_001267550.2(TTN):c.68285T>C (p.Leu22762Pro) rs1359881893 0.00001
NM_001267550.2(TTN):c.67458T>G (p.Tyr22486Ter)
NM_001267550.2(TTN):c.67491G>A (p.Trp22497Ter)
NM_001267550.2(TTN):c.67570_67573del (p.Ser22524fs)
NM_001267550.2(TTN):c.67613del (p.Thr22538fs)
NM_001267550.2(TTN):c.67636+1G>A
NM_001267550.2(TTN):c.67637-1G>C rs886038831
NM_001267550.2(TTN):c.67751G>A (p.Trp22584Ter)
NM_001267550.2(TTN):c.67856G>A (p.Gly22619Glu) rs886055252
NM_001267550.2(TTN):c.68087C>A (p.Ser22696Ter)
NM_001267550.2(TTN):c.68169_68171dup (p.Tyr22724Ter)
NM_001267550.2(TTN):c.68242_68243dup (p.Pro22749fs) rs1085307600
NM_001267550.2(TTN):c.68302A>T (p.Lys22768Ter) rs2154174786
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_001267550.2(TTN):c.68323dup (p.Ile22775fs)

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