ClinVar Miner

List of variants in gene DYSF reported by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.71202
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128 0.14353
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356 0.06463
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355 0.02232
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288 0.01748
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=) rs35984374 0.01679
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=) rs76576806 0.01043
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.3337C>T (p.Arg1113Cys) rs141536854 0.00601
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His) rs59915619 0.00594
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala) rs35884879 0.00589
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610 0.00580
NM_001130987.2(DYSF):c.777C>T (p.Ile259=) rs138054675 0.00464
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val) rs145401010 0.00428
NM_001130987.2(DYSF):c.1288G>A (p.Val430Met) rs144202114 0.00373
NM_001130987.2(DYSF):c.2817G>A (p.Ser939=) rs148902254 0.00349
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val) rs115279465 0.00342
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641 0.00257
NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys) rs116426399 0.00200
NM_001130987.2(DYSF):c.5058C>A (p.Leu1686=) rs141476432 0.00168
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp) rs139879284 0.00161
NM_001130987.2(DYSF):c.4756-3C>T rs371227553 0.00153
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=) rs147263499 0.00143
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640 0.00134
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562 0.00124
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.1447A>G (p.Met483Val) rs141818764 0.00096
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu) rs147950418 0.00094
NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val) rs145007061 0.00087
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047 0.00082
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.3814C>T (p.Arg1272Trp) rs146970014 0.00059
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383 0.00057
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493 0.00050
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His) rs2303603 0.00049
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
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.3086-9C>T rs185350547 0.00036
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=) rs145412880 0.00036
NM_001130987.2(DYSF):c.4792G>A (p.Ala1598Thr) rs146213322 0.00030
NM_001130987.2(DYSF):c.5478C>T (p.Val1826=) rs145143725 0.00030
NM_001130987.2(DYSF):c.6063G>A (p.Ala2021=) rs138936064 0.00030
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=) rs150093305 0.00026
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu) rs372880553 0.00024
NM_001130987.2(DYSF):c.4050C>T (p.Thr1350=) rs138751942 0.00024
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val) rs150834671 0.00021
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) rs202123283 0.00018
NM_001130987.2(DYSF):c.3304C>T (p.Arg1102Cys) rs764208388 0.00018
NM_001130987.2(DYSF):c.5022C>T (p.Cys1674=) rs149989207 0.00018
NM_001130987.2(DYSF):c.2104C>T (p.Arg702Trp) rs148652047 0.00016
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354 0.00016
NM_001130987.2(DYSF):c.3778C>T (p.Arg1260Cys) rs369170272 0.00016
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909 0.00016
NM_001130987.2(DYSF):c.5362C>T (p.Arg1788Cys) rs545645581 0.00016
NM_001130987.2(DYSF):c.1140C>T (p.Asp380=) rs373744398 0.00015
NM_001130987.2(DYSF):c.3409G>A (p.Val1137Met) rs144634077 0.00015
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His) rs147678255 0.00014
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln) rs140002194 0.00014
NM_001130987.2(DYSF):c.127G>A (p.Val43Met) rs374203339 0.00013
NM_003494.4(DYSF):c.1508C>T (p.Ser503Leu) rs144931729 0.00013
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501 0.00010
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.6100A>C (p.Ser2034Arg) rs201890095 0.00009
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met) rs775539496 0.00008
NM_001130987.2(DYSF):c.565G>A (p.Glu189Lys) rs151054827 0.00008
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His) rs777489323 0.00007
NM_001130987.2(DYSF):c.4359G>A (p.Ala1453=) rs371816429 0.00007
NM_001130987.2(DYSF):c.1711C>T (p.Arg571Cys) rs767415886 0.00006
NM_001130987.2(DYSF):c.1774G>T (p.Asp592Tyr) rs376932915 0.00006
NM_001130987.2(DYSF):c.1841C>T (p.Ala614Val) rs146261069 0.00006
NM_001130987.2(DYSF):c.132C>A (p.Asn44Lys) rs772240035 0.00005
NM_001130987.2(DYSF):c.6086A>G (p.Glu2029Gly) rs773799968 0.00005
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) rs398123799 0.00005
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=) rs373328706 0.00004
NM_001130987.2(DYSF):c.3190C>T (p.Arg1064Cys) rs752810646 0.00004
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp) rs398123787 0.00004
NM_001130987.2(DYSF):c.4713G>A (p.Thr1571=) rs369750372 0.00004
NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met) rs769739410 0.00003
NM_001130987.2(DYSF):c.3506G>A (p.Arg1169His) rs780134612 0.00003
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) rs148860301 0.00003
NM_001130987.2(DYSF):c.5558G>A (p.Arg1853His) rs372895279 0.00003
NM_001130987.2(DYSF):c.1149+1G>A rs398123763 0.00002
NM_001130987.2(DYSF):c.2821G>A (p.Gly941Ser) rs747089235 0.00002
NM_001130987.2(DYSF):c.6208C>G (p.Pro2070Ala) rs778611782 0.00002
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955 0.00002
NM_001130987.2(DYSF):c.785G>A (p.Arg262His) rs764849844 0.00002
NM_001130987.2(DYSF):c.1276+5G>A rs766433603 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.3202C>G (p.Leu1068Val) rs781120136 0.00001
NM_001130987.2(DYSF):c.3458T>C (p.Phe1153Ser) rs886044487 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.4057G>A (p.Glu1353Lys) rs758993965 0.00001
NM_001130987.2(DYSF):c.4060-7T>A rs753614306 0.00001
NM_001130987.2(DYSF):c.5403G>A (p.Pro1801=) rs771738959 0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052 0.00001
NM_001130987.2(DYSF):c.5483T>C (p.Leu1828Pro) rs727503914 0.00001
NM_001130987.2(DYSF):c.5720A>G (p.Asn1907Ser) rs543664648 0.00001
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) rs121908959 0.00001
NM_001130987.2(DYSF):c.1033+4A>T rs1397221551
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs) rs398123764
NM_001130987.2(DYSF):c.1263_1276+1dup rs863225019
NM_001130987.2(DYSF):c.128T>G (p.Val43Gly)
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter) rs202044973
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs) rs398123767
NM_001130987.2(DYSF):c.1518C>T (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.1576G>T (p.Val526Leu) rs886044537
NM_001130987.2(DYSF):c.167dup (p.Ile58fs) rs863225020
NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter) rs1553543506
NM_001130987.2(DYSF):c.1906G>C (p.Gly636Arg) rs201049092
NM_001130987.2(DYSF):c.2216+9dup rs760948624
NM_001130987.2(DYSF):c.2421C>T (p.Ser807=) rs560856407
NM_001130987.2(DYSF):c.2615T>G (p.Val872Gly) rs1574041904
NM_001130987.2(DYSF):c.2677C>A (p.Leu893Met)
NM_001130987.2(DYSF):c.280G>A (p.Ala94Thr) rs759171890
NM_001130987.2(DYSF):c.3066C>G (p.Asn1022Lys)
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.3311C>T (p.Thr1104Ile) rs1553361773
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.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met) rs148858485
NM_001130987.2(DYSF):c.3859dup (p.Glu1287fs) rs779407815
NM_001130987.2(DYSF):c.4238A>G (p.Glu1413Gly) rs2093790724
NM_001130987.2(DYSF):c.4244A>C (p.Tyr1415Ser) rs775254512
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) rs766016391
NM_001130987.2(DYSF):c.4810A>G (p.Arg1604Gly) rs1558750109
NM_001130987.2(DYSF):c.5171G>C (p.Cys1724Ser)
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.5546G>A (p.Arg1849Lys) rs786205084
NM_001130987.2(DYSF):c.5547-1G>C rs1573094617
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.706C>T (p.Arg236Ter) rs373585652
NM_001130987.2(DYSF):c.889-7C>G
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003494.4(DYSF):c.1481-1G>A rs398123770

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