ClinVar Miner

Variants in gene DYSF with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 176
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.*53G>A rs114777968 0.01775
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939 0.01642
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406 0.00792
NM_001130987.2(DYSF):c.1380+6G>C rs75796187 0.00745
NM_001130987.2(DYSF):c.*107T>A rs11903223 0.00707
NM_001130987.2(DYSF):c.*267C>G rs181677134 0.00625
NM_001130987.2(DYSF):c.2980-15C>T rs148732505 0.00477
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val) rs145401010 0.00428
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=) rs116204385 0.00336
NM_001130987.2(DYSF):c.3403-10G>A rs116733194 0.00168
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp) rs139879284 0.00161
NM_001130987.2(DYSF):c.2409+14G>A rs141170955 0.00148
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640 0.00134
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837 0.00115
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr) rs141867897 0.00113
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654 0.00112
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=) rs142483266 0.00109
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=) rs142404822 0.00098
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764 0.00096
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu) rs147950418 0.00094
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) rs138654170 0.00082
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047 0.00082
NM_001130987.2(DYSF):c.3756+9G>T rs191746041 0.00081
NM_001130987.2(DYSF):c.4694A>C (p.Lys1565Thr) rs76086153 0.00080
NM_001130987.2(DYSF):c.2034G>A (p.Val678=) rs138111360 0.00076
NM_001130987.2(DYSF):c.6174-9C>T rs201070766 0.00075
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534 0.00072
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp) rs148541407 0.00071
NM_001130987.2(DYSF):c.990C>T (p.Leu330=) rs140809078 0.00065
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg) rs200970855 0.00062
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp) rs146970014 0.00059
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383 0.00057
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=) rs143475751 0.00055
NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile) rs143895253 0.00055
NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys) rs185119682 0.00053
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493 0.00050
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=) rs544993852 0.00048
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410 0.00046
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=) rs142769942 0.00045
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717 0.00044
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu) rs139411595 0.00043
NM_001130987.2(DYSF):c.978A>T (p.Thr326=) rs112007817 0.00043
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln) rs35297901 0.00041
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=) rs148055736 0.00037
NM_001130987.2(DYSF):c.3086-9C>T rs185350547 0.00036
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=) rs145412880 0.00036
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His) rs150139276 0.00034
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln) rs145272777 0.00033
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=) rs148697028 0.00028
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=) rs150093305 0.00026
NM_001130987.2(DYSF):c.2217-11G>A rs200853014 0.00026
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys) rs200049922 0.00025
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu) rs372880553 0.00024
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser) rs149768871 0.00024
NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=) rs150355624 0.00021
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser) rs139529811 0.00021
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val) rs150834671 0.00021
NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg) rs143562525 0.00021
NM_001130987.2(DYSF):c.1784C>T (p.Ala595Val) rs201515915 0.00020
NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu) rs150942486 0.00020
NM_001130987.2(DYSF):c.316C>T (p.Leu106=) rs374934430 0.00019
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852 0.00019
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) rs202123283 0.00018
NM_001130987.2(DYSF):c.772G>A (p.Val258Met) rs150345121 0.00018
NM_001130987.2(DYSF):c.3756T>C (p.Tyr1252=) rs141720146 0.00017
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354 0.00016
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909 0.00016
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met) rs143059463 0.00016
NM_001130987.2(DYSF):c.1140C>T (p.Asp380=) rs373744398 0.00015
NM_001130987.2(DYSF):c.279C>T (p.Leu93=) rs138870937 0.00015
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=) rs191337920 0.00014
NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu) rs150717638 0.00014
NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=) rs151276652 0.00014
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His) rs147678255 0.00014
NM_001130987.2(DYSF):c.3541G>A (p.Asp1181Asn) rs139194093 0.00013
NM_001130987.2(DYSF):c.5785-8C>T rs201191038 0.00013
NM_001130987.2(DYSF):c.1481G>A (p.Arg494His) rs199879861 0.00012
NM_001130987.2(DYSF):c.2593C>T (p.Arg865Trp) rs200487610 0.00012
NM_001130987.2(DYSF):c.5094C>T (p.Ile1698=) rs149087116 0.00012
NM_001130987.2(DYSF):c.2864+8G>A rs371686795 0.00011
NM_001130987.2(DYSF):c.5884+6C>T rs144355449 0.00011
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala) rs150029218 0.00011
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501 0.00010
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=) rs146687581 0.00009
NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp) rs149386446 0.00009
NM_001130987.2(DYSF):c.2725G>A (p.Val909Ile) rs201622087 0.00009
NM_001130987.2(DYSF):c.337C>T (p.Pro113Ser) rs753922932 0.00009
NM_001130987.2(DYSF):c.3402+11C>G rs780844859 0.00009
NM_001130987.2(DYSF):c.395C>G (p.Pro132Arg) rs775881095 0.00009
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val) rs201476613 0.00009
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala) rs151268930 0.00009
NM_001130987.2(DYSF):c.6100A>C (p.Ser2034Arg) rs201890095 0.00009
NM_001130987.2(DYSF):c.690C>T (p.Pro230=) rs376293526 0.00009
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met) rs775539496 0.00008
NM_001130987.2(DYSF):c.1281C>T (p.Asp427=) rs147244033 0.00007
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His) rs777489323 0.00007
NM_001130987.2(DYSF):c.2937C>T (p.Pro979=) rs192717273 0.00007
NM_001130987.2(DYSF):c.3505C>T (p.Arg1169Cys) rs200719174 0.00007
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val) rs146588926 0.00006
NM_001130987.2(DYSF):c.378G>A (p.Pro126=) rs377056951 0.00006
NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn) rs182185801 0.00006
NM_001130987.2(DYSF):c.799G>A (p.Val267Met) rs750724439 0.00006
NM_001130987.2(DYSF):c.2167G>A (p.Val723Met) rs182450244 0.00005
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=) rs398123778 0.00005
NM_001130987.2(DYSF):c.405G>A (p.Pro135=) rs973059586 0.00005
NM_001130987.2(DYSF):c.4125C>T (p.Leu1375=) rs773240314 0.00005
NM_001130987.2(DYSF):c.5547-4C>T rs373098428 0.00005
NM_001130987.2(DYSF):c.1287C>T (p.Ala429=) rs769254776 0.00004
NM_001130987.2(DYSF):c.1807-10C>T rs749361351 0.00004
NM_001130987.2(DYSF):c.1985-4C>G rs374489513 0.00004
NM_001130987.2(DYSF):c.2016C>T (p.Asn672=) rs199565036 0.00004
NM_001130987.2(DYSF):c.2370G>A (p.Ala790=) rs553605812 0.00004
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=) rs373328706 0.00004
NM_001130987.2(DYSF):c.3228+7C>T rs534331009 0.00004
NM_001130987.2(DYSF):c.4059+7C>T rs562567295 0.00004
NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys) rs752946123 0.00004
NM_001130987.2(DYSF):c.5742C>T (p.Phe1914=) rs769289729 0.00004
NM_001130987.2(DYSF):c.1449+7C>T rs199608017 0.00003
NM_001130987.2(DYSF):c.2205C>T (p.Ile735=) rs754177085 0.00003
NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile) rs148925399 0.00003
NM_001130987.2(DYSF):c.558A>G (p.Thr186=) rs781732915 0.00003
NM_001130987.2(DYSF):c.5643-12A>G rs375507062 0.00003
NM_001130987.2(DYSF):c.760-8G>C rs748159785 0.00003
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp) rs527435707 0.00002
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=) rs769518034 0.00002
NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met) rs570860273 0.00002
NM_001130987.2(DYSF):c.3321C>T (p.Phe1107=) rs945602962 0.00002
NM_001130987.2(DYSF):c.4932C>T (p.Ile1644=) rs763309812 0.00002
NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln) rs957111625 0.00002
NM_001130987.2(DYSF):c.6254C>A (p.Ala2085Asp) rs1271141178 0.00002
NM_001130987.2(DYSF):c.1205G>A (p.Arg402Gln) rs375071568 0.00001
NM_001130987.2(DYSF):c.1276+13C>T rs373530549 0.00001
NM_001130987.2(DYSF):c.1493+13T>C rs886056279 0.00001
NM_001130987.2(DYSF):c.1577-10T>C rs371967475 0.00001
NM_001130987.2(DYSF):c.1577-1639G>C rs767550929 0.00001
NM_001130987.2(DYSF):c.1807-13T>C rs756387775 0.00001
NM_001130987.2(DYSF):c.1905C>T (p.Ile635=) rs567956595 0.00001
NM_001130987.2(DYSF):c.1926C>T (p.Phe642=) rs550180529 0.00001
NM_001130987.2(DYSF):c.2400G>A (p.Leu800=) rs757613811 0.00001
NM_001130987.2(DYSF):c.3161C>T (p.Thr1054Ile) rs770883682 0.00001
NM_001130987.2(DYSF):c.3477G>A (p.Thr1159=) rs576460368 0.00001
NM_001130987.2(DYSF):c.4149G>A (p.Thr1383=) rs566381009 0.00001
NM_001130987.2(DYSF):c.4188C>T (p.Pro1396=) rs774464702 0.00001
NM_001130987.2(DYSF):c.4261G>A (p.Val1421Ile) rs767049254 0.00001
NM_001130987.2(DYSF):c.4341G>A (p.Leu1447=) rs144072850 0.00001
NM_001130987.2(DYSF):c.4356G>A (p.Ser1452=) rs368451006 0.00001
NM_001130987.2(DYSF):c.5427C>G (p.Leu1809=) rs763198861 0.00001
NM_001130987.2(DYSF):c.554-8C>T rs1257627361 0.00001
NM_001130987.2(DYSF):c.5614G>A (p.Glu1872Lys) rs201592500 0.00001
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=) rs577921112 0.00001
NM_001130987.2(DYSF):c.606G>A (p.Ala202=) rs398123791 0.00001
NM_001130987.2(DYSF):c.6174-8G>A rs777167646 0.00001
NM_001130987.2(DYSF):c.1215C>T (p.Gly405=) rs754820811
NM_001130987.2(DYSF):c.1371G>A (p.Ala457=) rs140667960
NM_001130987.2(DYSF):c.1374G>T (p.Gly458=) rs771092045
NM_001130987.2(DYSF):c.1518C>A (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.1944G>T (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.1985-15G>A rs146407633
NM_001130987.2(DYSF):c.2093G>T (p.Gly698Val) rs770228554
NM_001130987.2(DYSF):c.2865-7_2865-5del rs761299898
NM_001130987.2(DYSF):c.3072T>A (p.Ala1024=) rs2092344930
NM_001130987.2(DYSF):c.3552G>A (p.Ala1184=) rs201319864
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met) rs148858485
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=) rs148858485
NM_001130987.2(DYSF):c.378G>T (p.Pro126=) rs377056951
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln) rs139654844
NM_001130987.2(DYSF):c.4461C>T (p.Ile1487=) rs751456837
NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met) rs144383140
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=) rs142301132
NM_001130987.2(DYSF):c.5784+10C>T rs758268866
NM_001130987.2(DYSF):c.603G>A (p.Glu201=) rs765064954
NM_001130987.2(DYSF):c.605C>T (p.Ala202Val) rs34999029
NM_003494.4(DYSF):c.4C>T (p.Leu2=) rs772536111

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