List of variants in gene DYSF reported as uncertain significance by GeneDx

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: 86

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg)	rs138268837	0.00115
NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val)	rs145007061	0.00087
NM_001130987.2(DYSF):c.2402C>T (p.Ala801Val)	rs147139414	0.00059
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp)	rs146970014	0.00059
NM_001130987.2(DYSF):c.794C>T (p.Pro265Leu)	rs143053635	0.00054
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln)	rs35297901	0.00041
NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr)	rs150917600	0.00037
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His)	rs150139276	0.00034
NM_001130987.2(DYSF):c.5216A>T (p.Gln1739Leu)	rs149408006	0.00034
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr)	rs34061568	0.00031
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys)	rs200049922	0.00025
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser)	rs149768871	0.00024
NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile)	rs146064054	0.00021
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val)	rs150834671	0.00021
NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu)	rs150942486	0.00020
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)	rs115407852	0.00019
NM_001130987.2(DYSF):c.4474G>A (p.Gly1492Ser)	rs766512164	0.00018
NM_001130987.2(DYSF):c.772G>A (p.Val258Met)	rs150345121	0.00018
NM_001130987.2(DYSF):c.4936A>G (p.Ile1646Val)	rs138357301	0.00017
NM_001130987.2(DYSF):c.3778C>T (p.Arg1260Cys)	rs369170272	0.00016
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His)	rs147678255	0.00014
NM_001130987.2(DYSF):c.5488C>T (p.Pro1830Ser)	rs145832952	0.00014
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln)	rs140002194	0.00014
NM_001130987.2(DYSF):c.2387G>A (p.Arg796His)	rs185891286	0.00013
NM_001130987.2(DYSF):c.5095G>A (p.Gly1699Ser)	rs375068646	0.00013
NM_001130987.2(DYSF):c.2068A>T (p.Ile690Phe)	rs367901920	0.00012
NM_001130987.2(DYSF):c.2434G>A (p.Val812Ile)	rs371609233	0.00011
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala)	rs150029218	0.00011
NM_001130987.2(DYSF):c.2386C>T (p.Arg796Cys)	rs143568054	0.00010
NM_001130987.2(DYSF):c.2509C>T (p.Arg837Trp)	rs371841411	0.00009
NM_001130987.2(DYSF):c.3907C>T (p.His1303Tyr)	rs202061751	0.00009
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala)	rs151268930	0.00009
NM_001130987.2(DYSF):c.4904A>G (p.Asn1635Ser)	rs772664716	0.00009
NM_001130987.2(DYSF):c.2393G>A (p.Arg798His)	rs763456750	0.00008
NM_001130987.2(DYSF):c.3505C>T (p.Arg1169Cys)	rs200719174	0.00007
NM_001130987.2(DYSF):c.1774G>T (p.Asp592Tyr)	rs376932915	0.00006
NM_001130987.2(DYSF):c.377C>T (p.Pro126Leu)	rs372573603	0.00006
NM_001130987.2(DYSF):c.4321C>T (p.Arg1441Cys)	rs377706756	0.00006
NM_001130987.2(DYSF):c.6035C>T (p.Ala2012Val)	rs201784424	0.00006
NM_001130987.2(DYSF):c.6247C>T (p.Arg2083Trp)	rs185617318	0.00006
NM_001130987.2(DYSF):c.132C>A (p.Asn44Lys)	rs772240035	0.00005
NM_001130987.2(DYSF):c.4702C>T (p.Arg1568Trp)	rs375698433	0.00005
NM_001130987.2(DYSF):c.6238C>T (p.Arg2080Trp)	rs200990851	0.00005
NM_001130987.2(DYSF):c.2284C>T (p.Arg762Cys)	rs181551438	0.00004
NM_001130987.2(DYSF):c.2864C>T (p.Thr955Ile)	rs201209494	0.00004
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu)	rs764931697	0.00004
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp)	rs760443264	0.00004
NM_001130987.2(DYSF):c.3190C>T (p.Arg1064Cys)	rs752810646	0.00004
NM_001130987.2(DYSF):c.2611C>T (p.Arg871Trp)	rs749542779	0.00003
NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met)	rs769739410	0.00003
NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile)	rs148925399	0.00003
NM_001130987.2(DYSF):c.4423C>T (p.Leu1475Phe)	rs367709130	0.00003
NM_001130987.2(DYSF):c.6203C>A (p.Thr2068Asn)	rs1261660052	0.00003
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp)	rs527435707	0.00002
NM_001130987.2(DYSF):c.1691A>C (p.Lys564Thr)	rs561875696	0.00002
NM_001130987.2(DYSF):c.289A>C (p.Ser97Arg)	rs762400168	0.00002
NM_001130987.2(DYSF):c.4896G>T (p.Lys1632Asn)	rs1453872151	0.00002
NM_001130987.2(DYSF):c.5269A>C (p.Thr1757Pro)	rs746919714	0.00002
NM_001130987.2(DYSF):c.5711G>C (p.Gly1904Ala)	rs1024524968	0.00002
NM_001130987.2(DYSF):c.739G>A (p.Asp247Asn)	rs529238728	0.00002
NM_001130987.2(DYSF):c.1411A>G (p.Asn471Asp)	rs1131691788	0.00001
NM_001130987.2(DYSF):c.1932G>A (p.Met644Ile)	rs1299723799	0.00001
NM_001130987.2(DYSF):c.2462G>A (p.Arg821His)	rs759675023	0.00001
NM_001130987.2(DYSF):c.2707G>A (p.Glu903Lys)	rs770997582	0.00001
NM_001130987.2(DYSF):c.3793C>T (p.Pro1265Ser)	rs1169519723	0.00001
NM_001130987.2(DYSF):c.4450C>A (p.Leu1484Ile)	rs375465887	0.00001
NM_001130987.2(DYSF):c.5450T>G (p.Ile1817Ser)	rs753632964	0.00001
NM_001130987.2(DYSF):c.6218C>A (p.Thr2073Asn)	rs771663815	0.00001
NM_001130987.2(DYSF):c.6222G>A (p.Met2074Ile)	rs557683788	0.00001
NM_001130987.2(DYSF):c.6242G>A (p.Arg2081His)	rs927657254	0.00001
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser)	rs777785781	0.00001
NM_003494.4(DYSF):c.1493G>T (p.Gly498Val)	rs1057524492	0.00001
NM_001130987.2(DYSF):c.1256G>A (p.Arg419Gln)	rs776036392
NM_001130987.2(DYSF):c.1343T>C (p.Val448Ala)
NM_001130987.2(DYSF):c.1712G>A (p.Arg571His)	rs1368149283
NM_001130987.2(DYSF):c.2930G>C (p.Arg977Pro)	rs752689148
NM_001130987.2(DYSF):c.3257G>T (p.Gly1086Val)	rs753826832
NM_001130987.2(DYSF):c.4249C>T (p.Pro1417Ser)	rs376134165
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln)	rs139654844
NM_001130987.2(DYSF):c.4651G>A (p.Val1551Met)	rs2094766224
NM_001130987.2(DYSF):c.5504G>A (p.Arg1835Gln)	rs762675721
NM_001130987.2(DYSF):c.5726G>A (p.Arg1909Lys)	rs886043028
NM_001130987.2(DYSF):c.5939A>T (p.Lys1980Met)	rs536703008
NM_001130987.2(DYSF):c.6153C>A (p.Asn2051Lys)	rs778053107
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[1] (p.2087ILFI[1])	rs749619435
NM_001130987.2(DYSF):c.754_759+5del	rs1433612344

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.