ClinVar Miner

List of variants in gene combination LOC126806433, TTN reported as uncertain significance for autosomal recessive limb-girdle muscular dystrophy type 2J

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His) rs75031300 0.00287
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys) rs145039979 0.00021
NM_001267550.2(TTN):c.6899A>G (p.Tyr2300Cys) rs772093035 0.00013
NM_001267550.2(TTN):c.7339G>A (p.Val2447Met) rs779064962 0.00011
NM_001267550.2(TTN):c.6927T>A (p.Asn2309Lys) rs147580120 0.00010
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) rs374615369 0.00008
NM_001267550.2(TTN):c.6950G>A (p.Arg2317His) rs764882950 0.00006
NM_001267550.2(TTN):c.6958C>T (p.Arg2320Cys) rs776478343 0.00004
NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu) rs145649088 0.00003
NM_001267550.2(TTN):c.6953G>A (p.Arg2318His) rs761566436 0.00003
NM_001267550.2(TTN):c.6995A>G (p.Asp2332Gly) rs749655939 0.00003
NM_001267550.2(TTN):c.6895T>C (p.Trp2299Arg) rs145585333 0.00002
NM_001267550.2(TTN):c.6923C>A (p.Ser2308Tyr) rs577966527 0.00002
NM_001267550.2(TTN):c.7057+1G>A rs763909866 0.00002
NM_001267550.2(TTN):c.6835C>G (p.Pro2279Ala) rs143679901 0.00001
NM_001267550.2(TTN):c.6845A>C (p.Tyr2282Ser) rs754307416 0.00001
NM_001267550.2(TTN):c.6979G>T (p.Asp2327Tyr) rs1554002409 0.00001
NM_001267550.2(TTN):c.7246G>A (p.Asp2416Asn) rs1383990376 0.00001
NM_001267550.2(TTN):c.7399A>G (p.Lys2467Glu) rs1362423521 0.00001
NM_001267550.2(TTN):c.7468C>T (p.Arg2490Cys) rs200131545 0.00001
NM_001267550.2(TTN):c.6816A>T (p.Glu2272Asp) rs1554002953
NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter) rs145649088
NM_001267550.2(TTN):c.6825del (p.Asp2275fs) rs2091959062
NM_001267550.2(TTN):c.6857del (p.Glu2285_Leu2286insTer) rs2154345136
NM_001267550.2(TTN):c.7005dup (p.Tyr2336fs)
NM_001267550.2(TTN):c.7026del (p.Lys2344fs) rs1211627330
NM_001267550.2(TTN):c.7031dup (p.Thr2345fs) rs2091933920
NM_001267550.2(TTN):c.7042_7045dup (p.Leu2349Ter)
NM_001267550.2(TTN):c.7057+1G>C
NM_001267550.2(TTN):c.7057+1del
NM_001267550.2(TTN):c.7104_7105del (p.Cys2368_Glu2369delinsTer) rs2154344972
NM_001267550.2(TTN):c.7148del (p.Ser2383fs) rs1060500437
NM_001267550.2(TTN):c.7177C>T (p.Gln2393Ter) rs2154344933
NM_001267550.2(TTN):c.7208T>C (p.Ile2403Thr) rs760895168
NM_001267550.2(TTN):c.7229A>C (p.His2410Pro) rs747828487
NM_001267550.2(TTN):c.7275C>G (p.Tyr2425Ter)
NM_001267550.2(TTN):c.7300C>T (p.Leu2434Phe) rs879004898
NM_001267550.2(TTN):c.7330+1_7330+8del
NM_001267550.2(TTN):c.7331-1G>A
NM_001267550.2(TTN):c.7365T>G (p.Asn2455Lys) rs777738635
NM_001267550.2(TTN):c.7365_7374del (p.Asn2455fs) rs794729397
NM_001267550.2(TTN):c.7368G>C (p.Val2456=) rs886055301
NM_001267550.2(TTN):c.7403T>C (p.Val2468Ala) rs886055300
NM_001267550.2(TTN):c.7408G>A (p.Val2470Ile) rs1228257559
NM_001267550.2(TTN):c.7450C>T (p.Gln2484Ter) rs2091844239
NM_001267550.2(TTN):c.7469G>T (p.Arg2490Leu) rs148920986

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