ClinVar Miner

List of variants in gene combination LOC126806431, TTN reported as uncertain significance 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: 50
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_001267550.2(TTN):c.17183-9T>C rs141687561 0.00133
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe) rs72648943 0.00039
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498 0.00028
NM_001267550.2(TTN):c.17129G>A (p.Arg5710Gln) rs200018866 0.00022
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys) rs376593556 0.00021
NM_001267550.2(TTN):c.16825G>A (p.Glu5609Lys) rs374682077 0.00009
NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu) rs370889765 0.00009
NM_001267550.2(TTN):c.17183-7C>T rs371785683 0.00009
NM_001267550.2(TTN):c.17437T>A (p.Cys5813Ser) rs368692616 0.00009
NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn) rs576904726 0.00006
NM_001267550.2(TTN):c.16961T>G (p.Val5654Gly) rs763581306 0.00004
NM_001267550.2(TTN):c.16863G>A (p.Glu5621=) rs727504441 0.00003
NM_001267550.2(TTN):c.17461+1G>T rs747990127 0.00003
NM_001267550.2(TTN):c.16868G>T (p.Gly5623Val) rs768364912 0.00002
NM_001267550.2(TTN):c.17596G>T (p.Gly5866Cys) rs753136638 0.00002
NM_001267550.2(TTN):c.16975G>A (p.Glu5659Lys) rs763708860 0.00001
NM_001267550.2(TTN):c.17032C>T (p.Arg5678Ter) rs1199616569 0.00001
NM_001267550.2(TTN):c.17047T>G (p.Tyr5683Asp) rs371062603 0.00001
NM_001267550.2(TTN):c.17182+5G>T rs2080545375 0.00001
NM_001267550.2(TTN):c.17189C>T (p.Pro5730Leu) rs779187099 0.00001
NM_001267550.2(TTN):c.17216C>T (p.Thr5739Ile) rs751087281 0.00001
NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp) rs377193479 0.00001
NM_001267550.2(TTN):c.17279C>T (p.Thr5760Met) rs770310501 0.00001
NM_001267550.2(TTN):c.17320G>A (p.Asp5774Asn) rs752660722 0.00001
NM_001267550.2(TTN):c.17328A>G (p.Ile5776Met) rs928844023 0.00001
NM_001267550.2(TTN):c.17331A>T (p.Arg5777Ser) rs367942154 0.00001
NM_001267550.2(TTN):c.17375T>C (p.Ile5792Thr) rs1225094303 0.00001
NM_001267550.2(TTN):c.17376T>G (p.Ile5792Met) rs1041967765 0.00001
NM_001267550.2(TTN):c.17645T>C (p.Ile5882Thr) rs763665430 0.00001
NM_001267550.2(TTN):c.17669G>C (p.Ser5890Thr) rs775293848 0.00001
NM_001267550.2(TTN):c.16834G>A (p.Gly5612Ser) rs1060500588
NM_001267550.2(TTN):c.16848_16849del (p.Cys5616_Glu5617delinsTer) rs2154309910
NM_001267550.2(TTN):c.16903+2T>C rs1060500574
NM_001267550.2(TTN):c.16907C>T (p.Ser5636Leu) rs1553925181
NM_001267550.2(TTN):c.17032_17033del (p.Arg5678fs)
NM_001267550.2(TTN):c.17182+1G>A
NM_001267550.2(TTN):c.17201AGA[1] (p.Lys5735del) rs1060500441
NM_001267550.2(TTN):c.17213G>A (p.Ser5738Asn) rs1060500502
NM_001267550.2(TTN):c.17281del (p.Thr5760_Val5761insTer) rs1392541002
NM_001267550.2(TTN):c.17357G>T (p.Ser5786Ile) rs1553924253
NM_001267550.2(TTN):c.17364C>T (p.Tyr5788=) rs2080475152
NM_001267550.2(TTN):c.17396A>G (p.Lys5799Arg) rs572678771
NM_001267550.2(TTN):c.17423C>T (p.Ala5808Val) rs1409068952
NM_001267550.2(TTN):c.17461+1G>A
NM_001267550.2(TTN):c.17461+1G>C rs747990127
NM_001267550.2(TTN):c.17461+5G>C
NM_001267550.2(TTN):c.17482G>T (p.Glu5828Ter)
NM_001267550.2(TTN):c.17558C>T (p.Thr5853Ile) rs2154308873
NM_001267550.2(TTN):c.17612_17613insAAAAATATAAAAT (p.Ile5871_Ser5872insLysIleTer)

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