ClinVar Miner

List of variants in gene combination LOC126806427, TTN reported as likely benign for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile) rs183245562 0.00093
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=) rs72677223 0.00028
NM_001267550.2(TTN):c.45083-12C>T rs377143579 0.00006
NM_001267550.2(TTN):c.45594A>T (p.Ala15198=) rs368632402 0.00005
NM_001267550.2(TTN):c.45054G>A (p.Ala15018=) rs781392140 0.00004
NM_001267550.2(TTN):c.45177A>G (p.Ala15059=) rs769716636 0.00004
NM_001267550.2(TTN):c.44916T>A (p.Val14972=) rs373390402 0.00003
NM_001267550.2(TTN):c.45567C>T (p.Tyr15189=) rs1455525236 0.00003
NM_001267550.2(TTN):c.45498C>T (p.Asp15166=) rs752554634 0.00002
NM_001267550.2(TTN):c.44914-19C>A rs771681725 0.00001
NM_001267550.2(TTN):c.44961T>C (p.Tyr14987=) rs977583042 0.00001
NM_001267550.2(TTN):c.45198G>A (p.Gly15066=) rs547564837 0.00001
NM_001267550.2(TTN):c.45327C>T (p.Thr15109=) rs376143828 0.00001
NM_001267550.2(TTN):c.45350-11T>C rs940979956 0.00001
NM_001267550.2(TTN):c.45546A>G (p.Thr15182=) rs1553717666 0.00001
NM_001267550.2(TTN):c.45582G>A (p.Gly15194=) rs1576555318 0.00001
NM_001267550.2(TTN):c.45585C>T (p.Ala15195=) rs780415755 0.00001
NM_001267550.2(TTN):c.45588C>A (p.Ala15196=) rs2058208982 0.00001
NM_001267550.2(TTN):c.45616+16C>T rs556605702 0.00001
NM_001267550.2(TTN):c.44914-7A>T
NM_001267550.2(TTN):c.44931T>C (p.Asp14977=) rs1253945810
NM_001267550.2(TTN):c.44937T>C (p.Ala14979=) rs370413913
NM_001267550.2(TTN):c.44937T>G (p.Ala14979=) rs370413913
NM_001267550.2(TTN):c.44943T>C (p.Ile14981=) rs2058359486
NM_001267550.2(TTN):c.44952C>A (p.Gly14984=)
NM_001267550.2(TTN):c.44964C>T (p.Asp14988=) rs2154212467
NM_001267550.2(TTN):c.45006A>G (p.Lys15002=)
NM_001267550.2(TTN):c.45053C>A (p.Ala15018Glu) rs72677221
NM_001267550.2(TTN):c.45082+14C>T
NM_001267550.2(TTN):c.45082+16T>C
NM_001267550.2(TTN):c.45082+8T>A rs2058334835
NM_001267550.2(TTN):c.45082+9A>G rs2154212317
NM_001267550.2(TTN):c.45083-11A>G
NM_001267550.2(TTN):c.45083-13T>C
NM_001267550.2(TTN):c.45083-18T>G rs2154212232
NM_001267550.2(TTN):c.45083-19G>T
NM_001267550.2(TTN):c.45083-19_45083-15del rs781409618
NM_001267550.2(TTN):c.45083-20T>C
NM_001267550.2(TTN):c.45083-9T>C rs1576565439
NM_001267550.2(TTN):c.45120T>C (p.Ile15040=) rs74580375
NM_001267550.2(TTN):c.45135A>G (p.Thr15045=) rs2154212161
NM_001267550.2(TTN):c.45141T>C (p.Thr15047=)
NM_001267550.2(TTN):c.45174C>A (p.Gly15058=) rs372609980
NM_001267550.2(TTN):c.45204G>A (p.Glu15068=) rs1177639165
NM_001267550.2(TTN):c.45216A>G (p.Glu15072=) rs2154212088
NM_001267550.2(TTN):c.45240T>A (p.Thr15080=) rs2154212069
NM_001267550.2(TTN):c.45247C>A (p.Arg15083=)
NM_001267550.2(TTN):c.45258C>T (p.Ile15086=)
NM_001267550.2(TTN):c.45279C>T (p.His15093=) rs775159704
NM_001267550.2(TTN):c.45300C>T (p.Tyr15100=)
NM_001267550.2(TTN):c.45349+13_45349+14del
NM_001267550.2(TTN):c.45350-12T>C
NM_001267550.2(TTN):c.45350-18G>T
NM_001267550.2(TTN):c.45350-20T>C
NM_001267550.2(TTN):c.45351A>G (p.Glu15117=)
NM_001267550.2(TTN):c.45372A>G (p.Ser15124=)
NM_001267550.2(TTN):c.45381A>G (p.Gln15127=) rs2058234369
NM_001267550.2(TTN):c.45423C>T (p.Cys15141=) rs879023017
NM_001267550.2(TTN):c.45435A>G (p.Lys15145=)
NM_001267550.2(TTN):c.45477T>G (p.Leu15159=)
NM_001267550.2(TTN):c.45510T>C (p.Asp15170=)
NM_001267550.2(TTN):c.45547T>C (p.Leu15183=)
NM_001267550.2(TTN):c.45555T>C (p.Asp15185=)
NM_001267550.2(TTN):c.45588C>T (p.Ala15196=)
NM_001267550.2(TTN):c.45616+10T>C
NM_001267550.2(TTN):c.45616+11T>A
NM_001267550.2(TTN):c.45616+16C>G rs556605702
NM_001267550.2(TTN):c.45616+18T>C rs2154211592
NM_001267550.2(TTN):c.45616+20T>A
NM_001267550.2(TTN):c.45616+3_45616+6dup rs1373938186

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