ClinVar Miner

List of variants in gene LOC126806429, TTN studied for autosomal recessive limb-girdle muscular dystrophy type 2J

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475 0.01294
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) rs28626194 0.00641
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520 0.00188
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500 0.00104
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr) rs202108224 0.00081
NM_001267550.2(TTN):c.20025C>A (p.Ala6675=) rs373842558 0.00079
NM_001267550.2(TTN):c.20108G>A (p.Arg6703Gln) rs546821182 0.00014
NM_001267550.2(TTN):c.19881G>A (p.Ser6627=) rs371495674 0.00012
NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser) rs571231816 0.00010
NM_001267550.2(TTN):c.19964A>G (p.Asp6655Gly) rs772947420 0.00006
NM_001267550.2(TTN):c.19962C>T (p.Ser6654=) rs765887722 0.00005
NM_001267550.2(TTN):c.19770A>G (p.Thr6590=) rs775289296 0.00004
NM_001267550.2(TTN):c.20057G>A (p.Arg6686Gln) rs202022304 0.00004
NM_001267550.2(TTN):c.20170G>A (p.Val6724Ile) rs140143513 0.00004
NM_001267550.2(TTN):c.19715-1G>A rs767658044 0.00003
NM_001267550.2(TTN):c.19728C>T (p.Phe6576=) rs751902051 0.00003
NM_001267550.2(TTN):c.19786A>G (p.Ile6596Val) rs369108292 0.00003
NM_001267550.2(TTN):c.19818A>G (p.Lys6606=) rs397517492 0.00003
NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn) rs747240394 0.00003
NM_001267550.2(TTN):c.19933A>G (p.Thr6645Ala) rs370671112 0.00003
NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn) rs397517493 0.00003
NM_001267550.2(TTN):c.20096T>A (p.Val6699Asp) rs907862282 0.00003
NM_001267550.2(TTN):c.20156T>C (p.Ile6719Thr) rs770377168 0.00003
NM_001267550.2(TTN):c.19855A>G (p.Lys6619Glu) rs1060500450 0.00002
NM_001267550.2(TTN):c.19994-15T>G rs556907769 0.00002
NM_001267550.2(TTN):c.19995A>T (p.Glu6665Asp) rs146828735 0.00002
NM_001267550.2(TTN):c.19931A>G (p.Tyr6644Cys) rs375417679 0.00001
NM_001267550.2(TTN):c.19949A>G (p.Asn6650Ser) rs751222632 0.00001
NM_001267550.2(TTN):c.19970G>T (p.Cys6657Phe) rs776748717 0.00001
NM_001267550.2(TTN):c.19977G>A (p.Thr6659=) rs1060503954 0.00001
NM_001267550.2(TTN):c.19983G>A (p.Leu6661=) rs1383144902 0.00001
NM_001267550.2(TTN):c.19994-13C>T rs775393005 0.00001
NM_001267550.2(TTN):c.20041G>A (p.Ala6681Thr) rs779405672 0.00001
NM_001267550.2(TTN):c.20085A>C (p.Pro6695=) rs1287032649 0.00001
NM_001267550.2(TTN):c.20096T>C (p.Val6699Ala) rs907862282 0.00001
NM_001267550.2(TTN):c.20107C>T (p.Arg6703Ter) rs2079499416 0.00001
NM_001267550.2(TTN):c.20169C>T (p.Ala6723=) rs727504776 0.00001
NM_001267550.2(TTN):c.20235C>T (p.Pro6745=) rs528625782 0.00001
NM_001267550.2(TTN):c.19731A>G (p.Leu6577=) rs2154306068
NM_001267550.2(TTN):c.19743G>A (p.Gly6581=)
NM_001267550.2(TTN):c.19744C>T (p.Arg6582Ter) rs794727829
NM_001267550.2(TTN):c.19782G>A (p.Lys6594=)
NM_001267550.2(TTN):c.19797A>G (p.Gly6599=)
NM_001267550.2(TTN):c.19806A>G (p.Pro6602=)
NM_001267550.2(TTN):c.19839A>G (p.Glu6613=)
NM_001267550.2(TTN):c.19848A>G (p.Ser6616=) rs1345701707
NM_001267550.2(TTN):c.19860T>C (p.Cys6620=)
NM_001267550.2(TTN):c.19877G>A (p.Gly6626Glu) rs1362220931
NM_001267550.2(TTN):c.19878G>A (p.Gly6626=)
NM_001267550.2(TTN):c.19881G>T (p.Ser6627=) rs371495674
NM_001267550.2(TTN):c.19884T>C (p.Thr6628=) rs748254218
NM_001267550.2(TTN):c.19899C>T (p.Leu6633=) rs2154305949
NM_001267550.2(TTN):c.19923T>C (p.Thr6641=) rs367702810
NM_001267550.2(TTN):c.19935T>G (p.Thr6645=)
NM_001267550.2(TTN):c.19938C>T (p.Cys6646=)
NM_001267550.2(TTN):c.19953T>C (p.Asp6651=)
NM_001267550.2(TTN):c.19959T>C (p.Gly6653=)
NM_001267550.2(TTN):c.19974T>C (p.Thr6658=)
NM_001267550.2(TTN):c.19977G>T (p.Thr6659=) rs1060503954
NM_001267550.2(TTN):c.19992A>G (p.Thr6664=) rs1560749476
NM_001267550.2(TTN):c.19993+13G>T rs2154305867
NM_001267550.2(TTN):c.19993+20_19993+29del rs2154305844
NM_001267550.2(TTN):c.19993+5G>A rs907914759
NM_001267550.2(TTN):c.19993+8A>G
NM_001267550.2(TTN):c.19994-10_19994-7del rs2154305619
NM_001267550.2(TTN):c.19994-19C>T
NM_001267550.2(TTN):c.19994-20C>G
NM_001267550.2(TTN):c.19994-6C>A rs1578104295
NM_001267550.2(TTN):c.19994-7T>G rs1292778822
NM_001267550.2(TTN):c.19998A>G (p.Pro6666=) rs1578104149
NM_001267550.2(TTN):c.20008del (p.Phe6669_Val6670insTer)
NM_001267550.2(TTN):c.20028C>T (p.Ser6676=)
NM_001267550.2(TTN):c.20035G>A (p.Val6679Met) rs1553917765
NM_001267550.2(TTN):c.20058A>C (p.Arg6686=)
NM_001267550.2(TTN):c.20112T>C (p.Asn6704=) rs1578102842
NM_001267550.2(TTN):c.20142C>T (p.Tyr6714=) rs535793314
NM_001267550.2(TTN):c.20143A>C (p.Arg6715=)
NM_001267550.2(TTN):c.20184C>T (p.Asn6728=)
NM_001267550.2(TTN):c.20185A>G (p.Asn6729Asp) rs794729619
NM_001267550.2(TTN):c.20235C>A (p.Pro6745=) rs528625782
NM_001267550.2(TTN):c.20247A>G (p.Thr6749=)
NM_001267550.2(TTN):c.20271A>G (p.Val6757=) rs759705680
NM_001267550.2(TTN):c.20275+12G>A
NM_001267550.2(TTN):c.20275+8T>C
NM_001267550.2(TTN):c.20275+9C>T rs1241874371

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