ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 210
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HGVS dbSNP
NM_001130987.2(DYSF):c.1136G>A (p.Gly379Glu) rs562361258
NM_001130987.2(DYSF):c.1256G>A (p.Arg419Gln) rs776036392
NM_001130987.2(DYSF):c.127G>A (p.Val43Met) rs374203339
NM_001130987.2(DYSF):c.132C>A (p.Asn44Lys) rs772240035
NM_001130987.2(DYSF):c.1341G>T (p.Leu447Phe) rs1553531841
NM_001130987.2(DYSF):c.1364G>C (p.Ser455Thr) rs371593605
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val) rs146588926
NM_001130987.2(DYSF):c.1380+9C>T
NM_001130987.2(DYSF):c.1406C>T (p.Thr469Met)
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764
NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile) rs146064054
NM_001130987.2(DYSF):c.1454C>T (p.Pro485Leu)
NM_001130987.2(DYSF):c.1461G>A (p.Met487Ile)
NM_001130987.2(DYSF):c.1481G>A (p.Arg494His) rs199879861
NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys) rs185119682
NM_001130987.2(DYSF):c.1549A>T (p.Ile517Phe)
NM_001130987.2(DYSF):c.1577-1664C>T
NM_001130987.2(DYSF):c.1577-1686C>G
NM_001130987.2(DYSF):c.1577-1686C>T rs368577086
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His) rs777489323
NM_001130987.2(DYSF):c.1676A>G (p.Glu559Gly) rs541663451
NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu575_Leu576insVal) rs1446214240
NM_001130987.2(DYSF):c.1774G>T (p.Asp592Tyr)
NM_001130987.2(DYSF):c.1791C>G (p.Asp597Glu)
NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp) rs149386446
NM_001130987.2(DYSF):c.1841C>T (p.Ala614Val) rs146261069
NM_001130987.2(DYSF):c.1859C>T (p.Thr620Ile)
NM_001130987.2(DYSF):c.2038T>A (p.Ser680Thr) rs765027098
NM_001130987.2(DYSF):c.205G>A (p.Val69Met)
NM_001130987.2(DYSF):c.2104C>T (p.Arg702Trp) rs148652047
NM_001130987.2(DYSF):c.2105G>A (p.Arg702Gln)
NM_001130987.2(DYSF):c.2116G>A (p.Gly706Ser)
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met) rs775539496
NM_001130987.2(DYSF):c.2167G>A (p.Val723Met) rs182450244
NM_001130987.2(DYSF):c.2239G>A (p.Glu747Lys)
NM_001130987.2(DYSF):c.2330A>G (p.Lys777Arg) rs372475742
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) rs138654170
NM_001130987.2(DYSF):c.2393G>A (p.Arg798His) rs763456750
NM_001130987.2(DYSF):c.2402C>T (p.Ala801Val) rs147139414
NM_001130987.2(DYSF):c.2426C>T (p.Pro809Leu)
NM_001130987.2(DYSF):c.2462G>A (p.Arg821His) rs759675023
NM_001130987.2(DYSF):c.246G>A (p.Leu82=) rs756463088
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln) rs35297901
NM_001130987.2(DYSF):c.2485G>A (p.Ala829Thr)
NM_001130987.2(DYSF):c.2506C>T (p.Arg836Trp)
NM_001130987.2(DYSF):c.2510G>A (p.Arg837Gln) rs748636047
NM_001130987.2(DYSF):c.2548C>A (p.Gln850Lys) rs199543257
NM_001130987.2(DYSF):c.2589C>T (p.Gly863=)
NM_001130987.2(DYSF):c.2593C>T (p.Arg865Trp) rs200487610
NM_001130987.2(DYSF):c.2594G>A (p.Arg865Gln) rs781777155
NM_001130987.2(DYSF):c.2612G>C (p.Arg871Pro) rs779790516
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys) rs200049922
NM_001130987.2(DYSF):c.2707G>A (p.Glu903Lys) rs770997582
NM_001130987.2(DYSF):c.2725G>A (p.Val909Ile) rs201622087
NM_001130987.2(DYSF):c.280G>C (p.Ala94Pro) rs759171890
NM_001130987.2(DYSF):c.2848G>C (p.Val950Leu)
NM_001130987.2(DYSF):c.2860A>G (p.Lys954Glu) rs1038837599
NM_001130987.2(DYSF):c.2864C>T (p.Thr955Ile) rs201209494
NM_001130987.2(DYSF):c.2865-7_2865-5del rs761299898
NM_001130987.2(DYSF):c.2875G>C (p.Asp959His) rs1553554968
NM_001130987.2(DYSF):c.2884G>A (p.Ala962Thr)
NM_001130987.2(DYSF):c.289A>C (p.Ser97Arg) rs762400168
NM_001130987.2(DYSF):c.2926A>G (p.Thr976Ala) rs886044026
NM_001130987.2(DYSF):c.2938G>A (p.Gly980Arg) rs151064013
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654
NM_001130987.2(DYSF):c.301A>G (p.Ser101Gly) rs1553518141
NM_001130987.2(DYSF):c.3043G>A (p.Glu1015Lys)
NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser) rs772518246
NM_001130987.2(DYSF):c.308A>G (p.Asn103Ser) rs201834175
NM_001130987.2(DYSF):c.3102C>G (p.Ile1034Met) rs768787171
NM_001130987.2(DYSF):c.3110C>T (p.Pro1037Leu)
NM_001130987.2(DYSF):c.3113C>A (p.Pro1038Gln) rs764931697
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu) rs764931697
NM_001130987.2(DYSF):c.3116A>T (p.Glu1039Val) rs1237272381
NM_001130987.2(DYSF):c.3118C>T (p.Arg1040Trp)
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu) rs372880553
NM_001130987.2(DYSF):c.3139C>G (p.Pro1047Ala) rs1358370392
NM_001130987.2(DYSF):c.3161C>G (p.Thr1054Arg)
NM_001130987.2(DYSF):c.3163C>T (p.His1055Tyr)
NM_001130987.2(DYSF):c.3166C>A (p.Arg1056=)
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys) rs144598063
NM_001130987.2(DYSF):c.3185G>A (p.Arg1062His)
NM_001130987.2(DYSF):c.3322C>T (p.Arg1108Cys) rs377079619
NM_001130987.2(DYSF):c.3328C>T (p.Arg1110Cys)
NM_001130987.2(DYSF):c.3331C>T (p.Arg1111Cys) rs372817333
NM_001130987.2(DYSF):c.3344G>A (p.Arg1115His) rs749610930
NM_001130987.2(DYSF):c.3397G>T (p.Ala1133Ser)
NM_001130987.2(DYSF):c.3409G>A (p.Val1137Met) rs144634077
NM_001130987.2(DYSF):c.346G>A (p.Ala116Thr)
NM_001130987.2(DYSF):c.3493G>A (p.Asp1165Asn) rs761528558
NM_001130987.2(DYSF):c.3506G>A (p.Arg1169His) rs780134612
NM_001130987.2(DYSF):c.3528G>A (p.Met1176Ile)
NM_001130987.2(DYSF):c.3538C>T (p.Arg1180Trp) rs759297236
NM_001130987.2(DYSF):c.3541G>A (p.Asp1181Asn) rs139194093
NM_001130987.2(DYSF):c.3563A>T (p.Asp1188Val) rs1442583354
NM_001130987.2(DYSF):c.3673G>A (p.Glu1225Lys)
NM_001130987.2(DYSF):c.3719C>T (p.Pro1240Leu)
NM_001130987.2(DYSF):c.3725T>C (p.Ile1242Thr) rs1553375353
NM_001130987.2(DYSF):c.3747T>G (p.His1249Gln)
NM_001130987.2(DYSF):c.3756T>C (p.Tyr1252=) rs141720146
NM_001130987.2(DYSF):c.3778C>T (p.Arg1260Cys) rs369170272
NM_001130987.2(DYSF):c.3794C>T (p.Pro1265Leu) rs539141161
NM_001130987.2(DYSF):c.3805C>T (p.Arg1269Trp)
NM_001130987.2(DYSF):c.3836C>T (p.Thr1279Met)
NM_001130987.2(DYSF):c.3851C>T (p.Pro1284Leu) rs761916273
NM_001130987.2(DYSF):c.3900G>A (p.Pro1300=) rs772742658
NM_001130987.2(DYSF):c.3928-10T>C rs1558589946
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu) rs147950418
NM_001130987.2(DYSF):c.4045C>T (p.Arg1349Cys)
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys)
NM_001130987.2(DYSF):c.4059G>A (p.Glu1353=) rs773542731
NM_001130987.2(DYSF):c.4060-7T>A
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp) rs199870606
NM_001130987.2(DYSF):c.413C>T (p.Thr138Ile) rs766841136
NM_001130987.2(DYSF):c.4148C>T (p.Thr1383Met) rs149182447
NM_001130987.2(DYSF):c.4244A>G (p.Tyr1415Cys) rs775254512
NM_001130987.2(DYSF):c.4249C>G (p.Pro1417Ala)
NM_001130987.2(DYSF):c.4279C>T (p.Arg1427Cys) rs138097846
NM_001130987.2(DYSF):c.4280G>A (p.Arg1427His)
NM_001130987.2(DYSF):c.4292G>A (p.Arg1431His)
NM_001130987.2(DYSF):c.4295G>A (p.Arg1432Gln) rs761337469
NM_001130987.2(DYSF):c.4303G>A (p.Val1435Met) rs766924837
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln) rs139654844
NM_001130987.2(DYSF):c.4325C>G (p.Ser1442Cys)
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu) rs139411595
NM_001130987.2(DYSF):c.4356G>A (p.Ser1452=)
NM_001130987.2(DYSF):c.4421T>C (p.Val1474Ala)
NM_001130987.2(DYSF):c.4423C>T (p.Leu1475Phe)
NM_001130987.2(DYSF):c.443A>G (p.Asp148Gly)
NM_001130987.2(DYSF):c.4528G>A (p.Glu1510Lys)
NM_001130987.2(DYSF):c.4591G>A (p.Gly1531Ser) rs747398354
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His) rs150139276
NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile) rs143895253
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys) rs757820496
NM_001130987.2(DYSF):c.4702C>T (p.Arg1568Trp) rs375698433
NM_001130987.2(DYSF):c.4705G>A (p.Gly1569Ser)
NM_001130987.2(DYSF):c.4715A>C (p.Gln1572Pro)
NM_001130987.2(DYSF):c.4792G>A (p.Ala1598Thr) rs146213322
NM_001130987.2(DYSF):c.4801A>G (p.Met1601Val)
NM_001130987.2(DYSF):c.4819C>T (p.His1607Tyr) rs1298041271
NM_001130987.2(DYSF):c.4831G>A (p.Ala1611Thr) rs143163327
NM_001130987.2(DYSF):c.4847A>G (p.Glu1616Gly) rs933715192
NM_001130987.2(DYSF):c.4867A>G (p.Ile1623Val) rs571364996
NM_001130987.2(DYSF):c.4904A>G (p.Asn1635Ser) rs772664716
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn) rs141704244
NM_001130987.2(DYSF):c.4936A>G (p.Ile1646Val) rs138357301
NM_001130987.2(DYSF):c.4970A>G (p.Tyr1657Cys) rs759505768
NM_001130987.2(DYSF):c.5000G>T (p.Gly1667Val)
NM_001130987.2(DYSF):c.5063A>G (p.Asp1688Gly)
NM_001130987.2(DYSF):c.5071C>G (p.Leu1691Val)
NM_001130987.2(DYSF):c.5095G>A (p.Gly1699Ser) rs375068646
NM_001130987.2(DYSF):c.5138T>C (p.Phe1713Ser) rs886044317
NM_001130987.2(DYSF):c.5146C>T (p.Arg1716Cys) rs771735871
NM_001130987.2(DYSF):c.5147G>A (p.Arg1716His) rs138472236
NM_001130987.2(DYSF):c.5176T>C (p.Ser1726Pro)
NM_001130987.2(DYSF):c.5180G>C (p.Gly1727Ala) rs146153532
NM_001130987.2(DYSF):c.5210C>G (p.Pro1737Arg)
NM_001130987.2(DYSF):c.5264A>T (p.Tyr1755Phe) rs755108809
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp) rs148541407
NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln)
NM_001130987.2(DYSF):c.5269A>C (p.Thr1757Pro) rs746919714
NM_001130987.2(DYSF):c.5275C>T (p.Arg1759Cys)
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His) rs147678255
NM_001130987.2(DYSF):c.5336A>G (p.Asn1779Ser)
NM_001130987.2(DYSF):c.5363G>A (p.Arg1788His) rs531935195
NM_001130987.2(DYSF):c.5389C>G (p.Gln1797Glu) rs370866476
NM_001130987.2(DYSF):c.5408A>G (p.His1803Arg) rs1558778744
NM_001130987.2(DYSF):c.5409C>G (p.His1803Gln)
NM_001130987.2(DYSF):c.5488C>T (p.Pro1830Ser) rs145832952
NM_001130987.2(DYSF):c.5540C>T (p.Ala1847Val) rs1436866611
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg) rs200970855
NM_001130987.2(DYSF):c.5609C>T (p.Thr1870Met) rs199649417
NM_001130987.2(DYSF):c.565G>A (p.Glu189Lys) rs151054827
NM_001130987.2(DYSF):c.5681A>T (p.Asp1894Val) rs1553416071
NM_001130987.2(DYSF):c.5726G>A (p.Arg1909Lys) rs886043028
NM_001130987.2(DYSF):c.5768G>T (p.Cys1923Phe) rs886044130
NM_001130987.2(DYSF):c.5874T>G (p.Asp1958Glu) rs750860886
NM_001130987.2(DYSF):c.5908C>T (p.Arg1970Cys) rs144116735
NM_001130987.2(DYSF):c.5932G>A (p.Ala1978Thr)
NM_001130987.2(DYSF):c.6115C>T (p.Arg2039Trp) rs149357145
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852
NM_001130987.2(DYSF):c.6139G>A (p.Glu2047Lys) rs886043489
NM_001130987.2(DYSF):c.6173+4A>C rs749127704
NM_001130987.2(DYSF):c.6173G>A (p.Arg2058Lys) rs886042452
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717
NM_001130987.2(DYSF):c.6222G>A (p.Met2074Ile) rs557683788
NM_001130987.2(DYSF):c.6247C>T (p.Arg2083Trp) rs185617318
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val) rs150834671
NM_001130987.2(DYSF):c.6259_6270ATCCTCTTCATC[3] (p.2087_2090ILFI[3]) rs749619435
NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg) rs143562525
NM_001130987.2(DYSF):c.6320C>T (p.Pro2107Leu) rs149732545
NM_001130987.2(DYSF):c.6358T>G (p.Ter2120Gly) rs1327953255
NM_001130987.2(DYSF):c.640G>T (p.Ala214Ser)
NM_001130987.2(DYSF):c.653C>T (p.Pro218Leu) rs752497222
NM_001130987.2(DYSF):c.671G>A (p.Arg224His)
NM_001130987.2(DYSF):c.677C>T (p.Pro226Leu) rs201980470
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala) rs150029218
NM_001130987.2(DYSF):c.751G>A (p.Asp251Asn)
NM_001130987.2(DYSF):c.759G>C (p.Gln253His) rs886044472
NM_001130987.2(DYSF):c.772G>A (p.Val258Met) rs150345121
NM_001130987.2(DYSF):c.794C>T (p.Pro265Leu) rs143053635
NM_001130987.2(DYSF):c.796G>T (p.Gly266Trp)
NM_001130987.2(DYSF):c.799G>A (p.Val267Met) rs750724439
NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr) rs150917600
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser) rs777785781
NM_001130987.2(DYSF):c.950C>T (p.Thr317Met) rs372952394
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu) rs398123807
NM_001130987.2(DYSF):c.962C>T (p.Ser321Phe) rs776921154
NM_003494.3(DYSF):c.4577A>C rs76086153
NM_003494.3(DYSF):c.5078G>A rs779987458

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