List of variants in gene combination LOC126806430, TTN reported as likely benign for autosomal recessive limb-girdle muscular dystrophy type 2J

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 112

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)	rs184412722	0.00111
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu)	rs73973139	0.00096
NM_001267550.2(TTN):c.18843A>G (p.Ser6281=)	rs755958191	0.00013
NM_001267550.2(TTN):c.18307+12A>G	rs376899412	0.00009
NM_001267550.2(TTN):c.18231C>T (p.Thr6077=)	rs377639910	0.00006
NM_001267550.2(TTN):c.18432T>C (p.Asn6144=)	rs749504085	0.00005
NM_001267550.2(TTN):c.18684T>C (p.Phe6228=)	rs368427156	0.00005
NM_001267550.2(TTN):c.18297C>G (p.Leu6099=)	rs764712226	0.00004
NM_001267550.2(TTN):c.18528T>C (p.Tyr6176=)	rs375408819	0.00004
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=)	rs377556808	0.00004
NM_001267550.2(TTN):c.18621T>G (p.Pro6207=)	rs752324971	0.00004
NM_001267550.2(TTN):c.18681G>A (p.Pro6227=)	rs372273496	0.00004
NM_001267550.2(TTN):c.18719G>A (p.Arg6240Gln)	rs761993856	0.00004
NM_001267550.2(TTN):c.18396T>C (p.Thr6132=)	rs534008239	0.00003
NM_001267550.2(TTN):c.18510A>G (p.Val6170=)	rs761425332	0.00003
NM_001267550.2(TTN):c.18590-14T>G	rs781455893	0.00003
NM_001267550.2(TTN):c.18645C>T (p.Asp6215=)	rs372400829	0.00003
NM_001267550.2(TTN):c.18657G>A (p.Glu6219=)	rs1282711943	0.00003
NM_001267550.2(TTN):c.18307+13C>T	rs201930482	0.00002
NM_001267550.2(TTN):c.18549C>T (p.Asp6183=)	rs200549353	0.00002
NM_001267550.2(TTN):c.18609A>G (p.Arg6203=)	rs777227340	0.00002
NM_001267550.2(TTN):c.18720A>G (p.Arg6240=)	rs201395913	0.00002
NM_001267550.2(TTN):c.18777C>A (p.Thr6259=)	rs750180579	0.00002
NM_001267550.2(TTN):c.18869-16T>A	rs369915523	0.00002
NM_001267550.2(TTN):c.18150A>G (p.Lys6050=)	rs991259759	0.00001
NM_001267550.2(TTN):c.18159C>T (p.His6053=)	rs2080192781	0.00001
NM_001267550.2(TTN):c.18297C>T (p.Leu6099=)	rs764712226	0.00001
NM_001267550.2(TTN):c.18308-17T>C	rs1392151041	0.00001
NM_001267550.2(TTN):c.18308-8A>G	rs754178580	0.00001
NM_001267550.2(TTN):c.18330G>A (p.Lys6110=)	rs1350814757	0.00001
NM_001267550.2(TTN):c.18381C>T (p.Cys6127=)	rs371610668	0.00001
NM_001267550.2(TTN):c.18426C>T (p.Asp6142=)	rs1435792777	0.00001
NM_001267550.2(TTN):c.18558G>A (p.Thr6186=)	rs778145097	0.00001
NM_001267550.2(TTN):c.18589+18A>G	rs752521286	0.00001
NM_001267550.2(TTN):c.18597C>A (p.Pro6199=)	rs753370006	0.00001
NM_001267550.2(TTN):c.18600C>G (p.Thr6200=)	rs1224786438	0.00001
NM_001267550.2(TTN):c.18618G>A (p.Lys6206=)	rs1348113407	0.00001
NM_001267550.2(TTN):c.18669G>A (p.Thr6223=)	rs772600691	0.00001
NM_001267550.2(TTN):c.18675A>G (p.Thr6225=)	rs2080000865	0.00001
NM_001267550.2(TTN):c.18717T>A (p.Ile6239=)	rs765483284	0.00001
NM_001267550.2(TTN):c.18744C>T (p.Thr6248=)	rs775965000	0.00001
NM_001267550.2(TTN):c.18840C>T (p.Cys6280=)	rs1329418633	0.00001
NM_001267550.2(TTN):c.18868+8A>T	rs932365960	0.00001
NM_001267550.2(TTN):c.18869-11T>C	rs1317638543	0.00001
NM_001267550.2(TTN):c.18870A>G (p.Glu6290=)	rs777577096	0.00001
NM_001267550.2(TTN):c.18957T>C (p.Pro6319=)	rs773018365	0.00001
NM_001267550.2(TTN):c.18144T>C (p.Asp6048=)	rs2154308002
NM_001267550.2(TTN):c.18205C>T (p.Leu6069=)
NM_001267550.2(TTN):c.18207A>T (p.Leu6069=)
NM_001267550.2(TTN):c.18249T>C (p.Ile6083=)	rs1057522780
NM_001267550.2(TTN):c.18258A>G (p.Leu6086=)
NM_001267550.2(TTN):c.18264T>C (p.Asn6088=)	rs748182054
NM_001267550.2(TTN):c.18276A>G (p.Thr6092=)	rs751657803
NM_001267550.2(TTN):c.18279A>T (p.Ala6093=)
NM_001267550.2(TTN):c.18303A>G (p.Val6101=)	rs1334337532
NM_001267550.2(TTN):c.18303A>T (p.Val6101=)
NM_001267550.2(TTN):c.18307+14A>G
NM_001267550.2(TTN):c.18307+20T>G
NM_001267550.2(TTN):c.18307+8C>T
NM_001267550.2(TTN):c.18308-16C>A	rs2080100319
NM_001267550.2(TTN):c.18308-4T>A
NM_001267550.2(TTN):c.18308-4T>G
NM_001267550.2(TTN):c.18308-8A>T
NM_001267550.2(TTN):c.18318A>G (p.Gln6106=)
NM_001267550.2(TTN):c.18348G>A (p.Val6116=)
NM_001267550.2(TTN):c.18372A>G (p.Thr6124=)
NM_001267550.2(TTN):c.18468C>T (p.Phe6156=)	rs886043405
NM_001267550.2(TTN):c.18504C>T (p.Ala6168=)
NM_001267550.2(TTN):c.18516T>C (p.Asn6172=)	rs1437976464
NM_001267550.2(TTN):c.18525T>G (p.Thr6175=)
NM_001267550.2(TTN):c.18552A>T (p.Ala6184=)	rs2080057937
NM_001267550.2(TTN):c.18561G>C (p.Ala6187=)
NM_001267550.2(TTN):c.18570C>T (p.Ser6190=)
NM_001267550.2(TTN):c.18585G>A (p.Val6195=)
NM_001267550.2(TTN):c.18589+10T>G
NM_001267550.2(TTN):c.18589+11G>C	rs2154307478
NM_001267550.2(TTN):c.18590-16C>A
NM_001267550.2(TTN):c.18590-19C>A
NM_001267550.2(TTN):c.18590-20T>C
NM_001267550.2(TTN):c.18590-4T>G	rs2154307389
NM_001267550.2(TTN):c.18591A>G (p.Glu6197=)	rs999871371
NM_001267550.2(TTN):c.18597C>T (p.Pro6199=)	rs753370006
NM_001267550.2(TTN):c.18612G>A (p.Glu6204=)	rs2154307365
NM_001267550.2(TTN):c.18630A>C (p.Val6210=)	rs762940490
NM_001267550.2(TTN):c.18633A>T (p.Val6211=)
NM_001267550.2(TTN):c.18639T>C (p.Tyr6213=)	rs1578138382
NM_001267550.2(TTN):c.18642T>C (p.Ser6214=)
NM_001267550.2(TTN):c.18654G>C (p.Leu6218=)
NM_001267550.2(TTN):c.18678T>A (p.Pro6226=)	rs777313455
NM_001267550.2(TTN):c.18690C>T (p.Val6230=)	rs754536598
NM_001267550.2(TTN):c.18705T>C (p.Asn6235=)	rs766055257
NM_001267550.2(TTN):c.18714A>G (p.Glu6238=)
NM_001267550.2(TTN):c.18720A>T (p.Arg6240=)	rs201395913
NM_001267550.2(TTN):c.18735C>T (p.Tyr6245=)
NM_001267550.2(TTN):c.18753G>A (p.Val6251=)
NM_001267550.2(TTN):c.18759G>A (p.Val6253=)
NM_001267550.2(TTN):c.18771T>C (p.His6257=)
NM_001267550.2(TTN):c.18807C>T (p.Tyr6269=)	rs189167196
NM_001267550.2(TTN):c.18810G>A (p.Gln6270=)	rs727505012
NM_001267550.2(TTN):c.18831C>A (p.Gly6277=)
NM_001267550.2(TTN):c.18868+17G>T	rs922396967
NM_001267550.2(TTN):c.18868+20G>A
NM_001267550.2(TTN):c.18869-14_18869-13del
NM_001267550.2(TTN):c.18869-16T>G
NM_001267550.2(TTN):c.18869-17C>G
NM_001267550.2(TTN):c.18869-8A>C
NM_001267550.2(TTN):c.18927C>T (p.Ala6309=)	rs370013727
NM_001267550.2(TTN):c.18930C>G (p.Thr6310=)
NM_001267550.2(TTN):c.18933T>C (p.Phe6311=)
NM_001267550.2(TTN):c.18942C>A (p.Thr6314=)
NM_001267550.2(TTN):c.18942C>G (p.Thr6314=)	rs572285982
NM_001267550.2(TTN):c.18960T>C (p.Pro6320=)

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