List of variants reported as pathogenic for Arthrogryposis multiplex congenita 6

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

Total variants: 80

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter)	rs1458048713	0.00006
NM_001164508.2(NEB):c.3255+1G>A	rs375628303	0.00006
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp)	rs533233215	0.00004
NM_001164508.2(NEB):c.21417+3A>G	rs148950085	0.00004
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter)	rs200731870	0.00004
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter)	rs749452641	0.00003
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter)	rs769345284	0.00003
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter)	rs754272530	0.00003
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter)	rs776569219	0.00002
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter)	rs1057517977	0.00002
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter)	rs928945364	0.00001
NM_001164508.2(NEB):c.1152+1G>A	rs398124167	0.00001
NM_001164508.2(NEB):c.18891+1G>A	rs1443738549	0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)	rs201553266	0.00001
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter)	rs750900690	0.00001
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter)	rs748922882	0.00001
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)	rs760935667	0.00001
NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs)	rs762133567	0.00001
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs)	rs555445835	0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs)	rs786204430	0.00001
NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter)	rs1553548666	0.00001
NM_001164508.2(NEB):c.294+2T>C	rs773952935	0.00001
NM_001164508.2(NEB):c.2943+1G>A	rs113091511	0.00001
NM_001164508.2(NEB):c.3879+1G>A	rs746999970	0.00001
NM_001164508.2(NEB):c.7228-1G>A	rs1057516996	0.00001
NM_001164508.2(NEB):c.78+1G>A	rs778593702	0.00001
NM_001164508.2(NEB):c.928-1G>A	rs1162553327	0.00001
NM_001164508.2(NEB):c.1015del (p.Ala339fs)	rs2150017687
NM_001164508.2(NEB):c.10872+1G>T	rs1336053002
NM_001164508.2(NEB):c.11289+1G>A
NM_001164508.2(NEB):c.1152+1G>T	rs398124167
NM_001164508.2(NEB):c.1161C>G (p.Tyr387Ter)	rs1259297878
NM_001164508.2(NEB):c.11806-1G>A	rs886041851
NM_001164508.2(NEB):c.12048_12049del (p.Lys4017fs)	rs2153972327
NM_001164508.2(NEB):c.12639+1G>A	rs2097758221
NM_001164508.2(NEB):c.12996G>A (p.Trp4332Ter)	rs2153939368
NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter)	rs1212374733
NM_001164508.2(NEB):c.1569+1G>A	rs1553605553
NM_001164508.2(NEB):c.17457G>A (p.Trp5819Ter)
NM_001164508.2(NEB):c.1802_1803del (p.Asp600_Tyr601insTer)	rs1553601066
NM_001164508.2(NEB):c.18211del (p.Asp6071fs)	rs997878946
NM_001164508.2(NEB):c.18786C>G (p.Tyr6262Ter)	rs374874999
NM_001164508.2(NEB):c.18808C>T (p.Arg6270Ter)	rs754369875
NM_001164508.2(NEB):c.18981C>G (p.Tyr6327Ter)	rs761964375
NM_001164508.2(NEB):c.19102-1G>T	rs2153702473
NM_001164508.2(NEB):c.19653G>A (p.Trp6551Ter)	rs2153657682
NM_001164508.2(NEB):c.20158-6A>G	rs1553715636
NM_001164508.2(NEB):c.20253del (p.Val6752fs)
NM_001164508.2(NEB):c.21936_21940del (p.Ile7312fs)
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter)	rs1575714905
NM_001164508.2(NEB):c.23421_23422del (p.Arg7807fs)	rs1553603400
NM_001164508.2(NEB):c.23805_23806del (p.Arg7935fs)	rs753192734
NM_001164508.2(NEB):c.23878_23881dup (p.Thr7961fs)
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs)	rs1553555882
NM_001164508.2(NEB):c.24267_24270del (p.Arg8090fs)	rs747564597
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs)	rs1344099907
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs)	rs934111355
NM_001164508.2(NEB):c.24368_24371dup (p.His8124fs)	rs1553548207
NM_001164508.2(NEB):c.24370_24374dup (p.Gln8126fs)
NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs)	rs755863625
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)	rs202048855
NM_001164508.2(NEB):c.24579G>C (p.Ser8193=)	rs202048855
NM_001164508.2(NEB):c.24687_24688del (p.Asn8230fs)	rs1559154278
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs)	rs776059611
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter)	rs767709270
NM_001164508.2(NEB):c.25129C>T (p.Arg8377Ter)	rs777232352
NM_001164508.2(NEB):c.25181C>A (p.Ser8394Ter)	rs2055484249
NM_001164508.2(NEB):c.2836-2A>G	rs1208297049
NM_001164508.2(NEB):c.3252_3255+3del	rs1559168230
NM_001164508.2(NEB):c.3255+1G>C	rs375628303
NM_001164508.2(NEB):c.3987+1G>A	rs780022652
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG	rs786204576
NM_001164508.2(NEB):c.6496-1G>A
NM_001164508.2(NEB):c.739del (p.Ala247fs)	rs2150350376
NM_001164508.2(NEB):c.7431+1919_7536+374del
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs)	rs878854368
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs)	rs398124172
NM_001164508.2(NEB):c.8425C>T (p.Arg2809Ter)	rs762881892
NM_001164508.2(NEB):c.8890-2A>G
NM_001164508.2(NEB):c.9775C>T (p.Arg3259Ter)	rs1301228529

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.