ClinVar Miner

List of variants in gene DYSF reported as pathogenic by Baylor Genetics

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Gene type:
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Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958 0.00006
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) rs398123799 0.00005
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp) rs398123787 0.00004
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter) rs727503911 0.00003
NM_001130987.2(DYSF):c.4802dup (p.Met1601fs) rs778065845 0.00003
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu) rs141497053 0.00003
NM_001130987.2(DYSF):c.1149+1G>A rs398123763 0.00002
NM_001130987.2(DYSF):c.1380+2T>C rs398123765 0.00002
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890 0.00002
NM_001130987.2(DYSF):c.3403-2A>G rs370874727 0.00002
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955 0.00002
NM_001130987.2(DYSF):c.1033+1G>A rs201869739 0.00001
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro) rs768546511 0.00001
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890 0.00001
NM_001130987.2(DYSF):c.1276+5G>A rs766433603 0.00001
NM_001130987.2(DYSF):c.1439T>C (p.Leu480Pro) rs794727119 0.00001
NM_001130987.2(DYSF):c.1693-6T>A rs886039573 0.00001
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp) rs377735262 0.00001
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768 0.00001
NM_001130987.2(DYSF):c.2125C>T (p.Gln709Ter) rs756258757 0.00001
NM_001130987.2(DYSF):c.2409+1G>A rs151317754 0.00001
NM_001130987.2(DYSF):c.2864+1G>A rs199954546 0.00001
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys) rs28937581 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001130987.2(DYSF):c.3421_3422del (p.Lys1141fs) rs748542672 0.00001
NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter) rs886042091 0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter) rs763674597 0.00001
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys) rs758993965 0.00001
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter) rs886044411 0.00001
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter) rs398123789 0.00001
NM_001130987.2(DYSF):c.5195G>A (p.Arg1732Gln) rs779987458 0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052 0.00001
NM_001130987.2(DYSF):c.5458-1G>A rs886042879 0.00001
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn) rs398123794 0.00001
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) rs121908959 0.00001
NM_001130987.2(DYSF):c.5884+1G>A rs756689063 0.00001
NM_001130987.2(DYSF):c.6099_6106dup (p.His2036fs) rs886042318 0.00001
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr) rs746663568 0.00001
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met) rs398123802 0.00001
NM_001130987.2(DYSF):c.961T>C (p.Ser321Pro) rs398123808 0.00001
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg) rs121908963 0.00001
NM_001130987.2(DYSF):c.1000del (p.Arg334fs) rs1573671276
NM_001130987.2(DYSF):c.1002+4A>G rs905322985
NM_001130987.2(DYSF):c.1055G>A (p.Trp352Ter)
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs) rs398123764
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg) rs766891289
NM_001130987.2(DYSF):c.1258del (p.Ala420fs) rs779969348
NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys) rs778673716
NM_001130987.2(DYSF):c.1261G>C (p.Glu421Gln)
NM_001130987.2(DYSF):c.128dup (p.Asn44fs)
NM_001130987.2(DYSF):c.1350del (p.Phe451fs) rs766936914
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter) rs202044973
NM_001130987.2(DYSF):c.1471dup (p.Met491fs) rs1236367931
NM_001130987.2(DYSF):c.148-2A>G
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs) rs398123767
NM_001130987.2(DYSF):c.1576+1del rs1553537332
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg) rs886043900
NM_001130987.2(DYSF):c.2365C>T (p.Gln789Ter) rs398123773
NM_001130987.2(DYSF):c.2550_2553del (p.Thr851fs) rs755849745
NM_001130987.2(DYSF):c.2605C>T (p.Gln869Ter) rs780129376
NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter) rs794727636
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys) rs727503910
NM_001130987.2(DYSF):c.2891del (p.His964fs)
NM_001130987.2(DYSF):c.2912dup (p.Phe972fs) rs2092323164
NM_001130987.2(DYSF):c.2924_2928del (p.Gln975fs) rs398123777
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg) rs750028300
NM_001130987.2(DYSF):c.3085+2T>C rs886042951
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter) rs369607332
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp) rs1553556116
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter) rs746315830
NM_001130987.2(DYSF):c.3381_3382del (p.Phe1128fs) rs398123780
NM_001130987.2(DYSF):c.342del (p.Ala116fs) rs886042379
NM_001130987.2(DYSF):c.3443_3453dup (p.Ser1152_Phe1153insProProTer)
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) rs398123781
NM_001130987.2(DYSF):c.3566_3567del (p.Ser1189fs) rs886042827
NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer) rs766341386
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs) rs766341386
NM_001130987.2(DYSF):c.3655C>T (p.Gln1219Ter) rs1380642629
NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter) rs143393575
NM_001130987.2(DYSF):c.3672C>G (p.Tyr1224Ter)
NM_001130987.2(DYSF):c.3859dup (p.Glu1287fs) rs779407815
NM_001130987.2(DYSF):c.4254del (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter) rs886043145
NM_001130987.2(DYSF):c.4550G>A (p.Trp1517Ter)
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) rs766016391
NM_001130987.2(DYSF):c.4756-1G>A rs2152940909
NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs) rs786200896
NM_001130987.2(DYSF):c.5003+1249G>T rs886042110
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs) rs1057519132
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5383C>T (p.Gln1795Ter) rs727503912
NM_001130987.2(DYSF):c.5531dup (p.Arg1845fs) rs1553415211
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe) rs886042584
NM_001130987.2(DYSF):c.5642+1G>A rs727503915
NM_001130987.2(DYSF):c.5642+3A>G
NM_001130987.2(DYSF):c.5646G>A (p.Trp1882Ter) rs886043966
NM_001130987.2(DYSF):c.5711del (p.Gly1904fs) rs786205081
NM_001130987.2(DYSF):c.5785-7G>A rs753861836
NM_001130987.2(DYSF):c.5815_5816del (p.Ser1939fs) rs398123796
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs) rs398123797
NM_001130987.2(DYSF):c.5977G>T (p.Glu1993Ter)
NM_001130987.2(DYSF):c.5990C>T (p.Ser1997Phe)
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser) rs1057521141
NM_001130987.2(DYSF):c.6198G>A (p.Trp2066Ter)
NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter) rs1553521017
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter) rs373585652
NM_001130987.2(DYSF):c.759+1G>C rs398123800
NM_001130987.2(DYSF):c.859del (p.His287fs)
NM_001130987.2(DYSF):c.888+1G>A rs886044377
NM_001130987.2(DYSF):c.892_893del (p.Leu298fs) rs1553522104
NM_001130987.2(DYSF):c.923del (p.Glu308fs) rs2086635842
NM_001130987.2(DYSF):c.951+1del rs786200898
NM_001130987.2(DYSF):c.959A>T (p.Asp320Val) rs1553522751
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003494.3(DYSF):c.3504dup (p.Lys1169Glnfs) rs886042504
NM_003494.4(DYSF):c.1481-1G>A rs398123770
NM_003494.4(DYSF):c.1642del rs398123772

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