ClinVar Miner

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

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Total variants: 57
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HGVS dbSNP
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501
NM_001130987.2(DYSF):c.1274_1276+4dup rs1553530017
NM_001130987.2(DYSF):c.1332_1334GAA[1] (p.Lys445del) rs1553531818
NM_001130987.2(DYSF):c.1439T>C (p.Leu480Pro) rs794727119
NM_001130987.2(DYSF):c.1576+18T>C rs768373625
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly) rs886042878
NM_001130987.2(DYSF):c.2462G>A (p.Arg821His) rs759675023
NM_001130987.2(DYSF):c.2463_2477dup (p.Ala823_Val827dup) rs1326126736
NM_001130987.2(DYSF):c.2777_2788del (p.Thr926_Ile929del) rs1553553762
NM_001130987.2(DYSF):c.2816C>T (p.Ser939Leu) rs535323489
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys) rs727503910
NM_001130987.2(DYSF):c.2864+5G>A rs886044131
NM_001130987.2(DYSF):c.298_300del (p.Ala100del) rs1316197789
NM_001130987.2(DYSF):c.3067C>T (p.Arg1023Trp) rs778316824
NM_001130987.2(DYSF):c.3098_3103dup (p.Ser1033_Ile1034dup) rs1553555901
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu) rs764931697
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp) rs760443264
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys) rs144598063
NM_001130987.2(DYSF):c.3239_3244CGGAGG[4] (p.1080_1081AE[4]) rs398123779
NM_001130987.2(DYSF):c.3322_3324CGC[5] (p.Arg1111dup) rs779680055
NM_001130987.2(DYSF):c.3333_3335del (p.Trp1112del) rs1553361884
NM_001130987.2(DYSF):c.3665_3667TCT[1] (p.Phe1223del) rs1173583014
NM_001130987.2(DYSF):c.3672C>T (p.Tyr1224=) rs143393575
NM_001130987.2(DYSF):c.3713_3718del (p.Gln1238_Pro1239del) rs748683903
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu) rs773837400
NM_001130987.2(DYSF):c.4150G>A (p.Val1384Met) rs1404000468
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837
NM_001130987.2(DYSF):c.4290_4292CCG[1] (p.Arg1432del) rs765090357
NM_001130987.2(DYSF):c.4387+3_4387+28del rs1553383255
NM_001130987.2(DYSF):c.4465-1G>A rs1553389041
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His) rs150139276
NM_001130987.2(DYSF):c.461-1G>A rs1553520795
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.4993G>A (p.Val1665Ile) rs147056383
NM_001130987.2(DYSF):c.5071_5073CTC[1] (p.Leu1692del) rs1163037004
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met) rs143059463
NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser) rs753279446
NM_001130987.2(DYSF):c.5174+6_5174+7dup rs1553412837
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln) rs145272777
NM_001130987.2(DYSF):c.5362C>T (p.Arg1788Cys) rs545645581
NM_001130987.2(DYSF):c.5488C>T (p.Pro1830Ser) rs145832952
NM_001130987.2(DYSF):c.5557C>T (p.Arg1853Cys) rs1280185461
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe) rs886042584
NM_001130987.2(DYSF):c.6063G>A (p.Ala2021=) rs138936064
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852
NM_001130987.2(DYSF):c.6259_6270ATCCTCTTCATC[1] (p.2087_2090ILFI[1]) rs749619435
NM_001130987.2(DYSF):c.6268_6270ATC[1] (p.Ile2091del) rs1553422765
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr) rs746663568
NM_001130987.2(DYSF):c.6320C>T (p.Pro2107Leu) rs149732545
NM_001130987.2(DYSF):c.632G>A (p.Gly211Asp) rs768820090
NM_001130987.2(DYSF):c.760-7_760-6delinsATCC rs1553521641
NM_001130987.2(DYSF):c.947T>C (p.Ile316Thr) rs1553522164
NM_001130987.2(DYSF):c.992G>A (p.Gly331Glu) rs1258728780
NM_003494.4(DYSF):c.3260_3262dup (p.Asp1087dup) rs1553361783
NM_003494.4(DYSF):c.5525+3dup rs1341734203

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