ClinVar Miner

List of variants in gene LOC126806427, TTN studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=) rs61004744 0.02387
NM_001267550.2(TTN):c.45206A>T (p.Glu15069Val) rs114331773 0.01832
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 0.00698
NM_001267550.2(TTN):c.45083-10A>G rs72677222 0.00683
NM_001267550.2(TTN):c.45350-13T>C rs113084617 0.00600
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626 0.00104
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile) rs183245562 0.00093
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=) rs372609980 0.00079
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00033
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=) rs72677223 0.00028
NM_001267550.2(TTN):c.45014T>C (p.Leu15005Pro) rs369992659 0.00015
NM_001267550.2(TTN):c.44978G>A (p.Gly14993Glu) rs200931793 0.00006
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.45128G>A (p.Ser15043Asn) rs376144178 0.00004
NM_001267550.2(TTN):c.45177A>G (p.Ala15059=) rs769716636 0.00004
NM_001267550.2(TTN):c.45199G>A (p.Asp15067Asn) rs370904881 0.00004
NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr) rs184078045 0.00004
NM_001267550.2(TTN):c.44916T>A (p.Val14972=) rs373390402 0.00003
NM_001267550.2(TTN):c.44987G>A (p.Arg14996His) rs762128685 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.44998A>G (p.Ile15000Val) rs775264673 0.00001
NM_001267550.2(TTN):c.45198G>A (p.Gly15066=) rs547564837 0.00001
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter) rs397517580 0.00001
NM_001267550.2(TTN):c.45322C>T (p.Arg15108Ter) rs1060500405 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.45505G>A (p.Ala15169Thr) rs759247684 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.45589A>G (p.Arg15197Gly) rs748906368 0.00001
NM_001267550.2(TTN):c.45616+16C>T rs556605702 0.00001
NM_001267550.2(TTN):c.45616+1G>C rs1395648308 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.44969del (p.Ile14990fs) rs2154212465
NM_001267550.2(TTN):c.44993T>C (p.Leu14998Pro) rs1553719829
NM_001267550.2(TTN):c.44999T>C (p.Ile15000Thr) rs886055275
NM_001267550.2(TTN):c.45001A>C (p.Asn15001His) rs373109469
NM_001267550.2(TTN):c.45006A>G (p.Lys15002=)
NM_001267550.2(TTN):c.45052G>C (p.Ala15018Pro) rs1060500472
NM_001267550.2(TTN):c.45053C>A (p.Ala15018Glu) rs72677221
NM_001267550.2(TTN):c.45053C>T (p.Ala15018Val) rs72677221
NM_001267550.2(TTN):c.45055A>T (p.Arg15019Ter) rs2154212373
NM_001267550.2(TTN):c.45082+14C>T
NM_001267550.2(TTN):c.45082+16T>C
NM_001267550.2(TTN):c.45082+4A>T
NM_001267550.2(TTN):c.45082+5G>A rs2058337645
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.45083-1G>A
NM_001267550.2(TTN):c.45083-20T>C
NM_001267550.2(TTN):c.45083-9T>C rs1576565439
NM_001267550.2(TTN):c.45090del (p.Ala15031fs)
NM_001267550.2(TTN):c.45100dup (p.Thr15034fs) rs2154212181
NM_001267550.2(TTN):c.45120T>C (p.Ile15040=) rs74580375
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met) 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.45156T>A (p.Cys15052Ter) rs1060500487
NM_001267550.2(TTN):c.45174C>A (p.Gly15058=) rs372609980
NM_001267550.2(TTN):c.45192del (p.Trp15063_Tyr15064insTer) rs1553718908
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.45221del (p.Gly15074fs) rs2058288753
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.45316_45320dup (p.Arg15108fs) rs794729390
NM_001267550.2(TTN):c.45349+13_45349+14del
NM_001267550.2(TTN):c.45349+1G>A rs2154211977
NM_001267550.2(TTN):c.45349+1G>T
NM_001267550.2(TTN):c.45349+3A>G rs1553718424
NM_001267550.2(TTN):c.45350-12T>C
NM_001267550.2(TTN):c.45350-18G>T
NM_001267550.2(TTN):c.45350-1G>C rs2058237051
NM_001267550.2(TTN):c.45350-20T>C
NM_001267550.2(TTN):c.45351A>G (p.Glu15117=)
NM_001267550.2(TTN):c.45355del (p.Ala15119fs)
NM_001267550.2(TTN):c.45372A>G (p.Ser15124=)
NM_001267550.2(TTN):c.45381A>G (p.Gln15127=) rs2058234369
NM_001267550.2(TTN):c.45383del (p.Asn15128fs)
NM_001267550.2(TTN):c.45423C>T (p.Cys15141=) rs879023017
NM_001267550.2(TTN):c.45431C>A (p.Ser15144Ter)
NM_001267550.2(TTN):c.45435A>G (p.Lys15145=)
NM_001267550.2(TTN):c.45449T>G (p.Val15150Gly) rs1060500496
NM_001267550.2(TTN):c.45459del (p.Arg15154fs)
NM_001267550.2(TTN):c.45477T>G (p.Leu15159=)
NM_001267550.2(TTN):c.45483_45495del (p.Gly15162fs)
NM_001267550.2(TTN):c.45495T>G (p.Tyr15165Ter)
NM_001267550.2(TTN):c.45510T>C (p.Asp15170=)
NM_001267550.2(TTN):c.45535A>T (p.Lys15179Ter) rs1559877046
NM_001267550.2(TTN):c.45547T>C (p.Leu15183=)
NM_001267550.2(TTN):c.45555T>C (p.Asp15185=)
NM_001267550.2(TTN):c.45564_45567dup (p.Val15190fs) rs2154211664
NM_001267550.2(TTN):c.45583del (p.Ala15195fs) rs2154211651
NM_001267550.2(TTN):c.45588C>T (p.Ala15196=)
NM_001267550.2(TTN):c.45601C>G (p.His15201Asp) rs794729438
NM_001267550.2(TTN):c.45602_45605del (p.His15201fs)
NM_001267550.2(TTN):c.45610_45613dup (p.Ile15205fs) rs2058205143
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
NM_133378.4(TTN):c.37385_37387delAAG rs759525338

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