ClinVar Miner

List of variants reported as likely pathogenic for Qualitative or quantitative defects of dysferlin

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Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.3173G>A (p.Arg1058Gln) rs372226487 0.00004
NM_001130987.2(DYSF):c.3190C>T (p.Arg1064Cys) rs752810646 0.00004
NM_001130987.2(DYSF):c.3170G>A (p.Arg1057Gln) rs149617331 0.00003
NM_001130987.2(DYSF):c.3498T>A (p.Tyr1166Ter) rs758944159 0.00003
NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln) rs747583441 0.00003
NM_001130987.2(DYSF):c.2930G>A (p.Arg977Gln) rs752689148 0.00002
NM_001130987.2(DYSF):c.3176G>A (p.Arg1059His) rs754763074 0.00002
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) rs121908962 0.00001
NM_001130987.2(DYSF):c.2409+1G>A rs151317754 0.00001
NM_001130987.2(DYSF):c.2426C>T (p.Pro809Leu) rs121908956 0.00001
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys) rs758993965 0.00001
NM_001130987.2(DYSF):c.4387+2T>C rs759939755 0.00001
NM_001130987.2(DYSF):c.4528-2A>G rs1213965862 0.00001
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys) rs757820496 0.00001
NM_001130987.2(DYSF):c.4911+1G>T rs777216777 0.00001
NM_001130987.2(DYSF):c.5784+1G>A rs909564120 0.00001
NM_001130987.2(DYSF):c.5885-1G>C rs771257070 0.00001
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr) rs746663568 0.00001
NM_001130987.2(DYSF):c.889-2A>G rs934428561 0.00001
NM_001130987.2(DYSF):c.961T>C (p.Ser321Pro) rs398123808 0.00001
NM_001130987.2(DYSF):c.992G>A (p.Gly331Glu) rs1258728780 0.00001
NC_000002.11:g.(?_71693963)_(71744179_?)dup
NC_000002.11:g.(?_71755408)_(71755551_?)dup
NC_000002.11:g.(?_71816713)_(71817428_?)dup
NC_000002.11:g.(?_71913574)_(71913729_?)del
NC_000002.12:g.(?_71511797)_(71539257_?)dup
NC_000002.12:g.(?_71520168)_(71549401_?)dup
NC_000002.12:g.(?_71549340)_(71549401_?)del
NM_001130987.2(DYSF):c.1003-2A>G rs1559065297
NM_001130987.2(DYSF):c.1003-3C>A rs2087101244
NM_001130987.2(DYSF):c.1055G>C (p.Trp352Ser) rs2152742210
NM_001130987.2(DYSF):c.1150-42_1155del rs1573743003
NM_001130987.2(DYSF):c.1150-43_1155delinsA rs1573743003
NM_001130987.2(DYSF):c.1272_1276+3dup
NM_001130987.2(DYSF):c.1276+5G>C rs766433603
NM_001130987.2(DYSF):c.1276_1276+3del
NM_001130987.2(DYSF):c.1381-2del
NM_001130987.2(DYSF):c.139T>C (p.Trp47Arg) rs2082832384
NM_001130987.2(DYSF):c.1475_1477del (p.Arg492del) rs2152761340
NM_001130987.2(DYSF):c.1493+1G>A rs1553536007
NM_001130987.2(DYSF):c.1494-1G>A rs398123768
NM_001130987.2(DYSF):c.157T>A (p.Trp53Arg) rs1553508863
NM_001130987.2(DYSF):c.1609G>T (p.Gly537Trp)
NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu574_Leu575insVal) rs1446214240
NM_001130987.2(DYSF):c.1806+2T>G rs2090962038
NM_001130987.2(DYSF):c.1985-2del rs774047700
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly) rs886042878
NM_001130987.2(DYSF):c.2109+1G>C rs2152792714
NM_001130987.2(DYSF):c.2409+1G>T
NM_001130987.2(DYSF):c.2410-2A>G rs1242016118
NM_001130987.2(DYSF):c.247G>C (p.Gly83Arg)
NM_001130987.2(DYSF):c.2697+5G>A rs2092213253
NM_001130987.2(DYSF):c.2697+5G>C rs2092213253
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys) rs727503910
NM_001130987.2(DYSF):c.2865-1G>A rs2152813916
NM_001130987.2(DYSF):c.2930G>C (p.Arg977Pro) rs752689148
NM_001130987.2(DYSF):c.2980-1G>C rs2092340224
NM_001130987.2(DYSF):c.3076G>C (p.Asp1026His)
NM_001130987.2(DYSF):c.3086-2A>G rs2092361815
NM_001130987.2(DYSF):c.3148A>G (p.Lys1050Glu) rs2092366383
NM_001130987.2(DYSF):c.3150G>C (p.Lys1050Asn)
NM_001130987.2(DYSF):c.3190C>A (p.Arg1064Ser)
NM_001130987.2(DYSF):c.3334T>C (p.Trp1112Arg)
NM_001130987.2(DYSF):c.3402+1G>A
NM_001130987.2(DYSF):c.3403-109_3436del
NM_001130987.2(DYSF):c.346-2A>C
NM_001130987.2(DYSF):c.3574+1G>A rs2152843484
NM_001130987.2(DYSF):c.3737T>C (p.Leu1246Pro) rs2152855991
NM_001130987.2(DYSF):c.3856G>A (p.Gly1286Arg) rs2093531900
NM_001130987.2(DYSF):c.3898-1G>C rs2152859973
NM_001130987.2(DYSF):c.3898-2A>C rs989599402
NM_001130987.2(DYSF):c.3928-2A>G rs2152861747
NM_001130987.2(DYSF):c.3957+1G>A
NM_001130987.2(DYSF):c.3957+2T>G rs1553377764
NM_001130987.2(DYSF):c.3958-1G>A
NM_001130987.2(DYSF):c.4193T>C (p.Phe1398Ser) rs2093763492
NM_001130987.2(DYSF):c.4387+2T>G
NM_001130987.2(DYSF):c.4528-2A>T
NM_001130987.2(DYSF):c.4528-2del
NM_001130987.2(DYSF):c.4528-5C>G rs774448845
NM_001130987.2(DYSF):c.4556A>C (p.Lys1519Thr) rs398123788
NM_001130987.2(DYSF):c.4556A>T (p.Lys1519Ile)
NM_001130987.2(DYSF):c.460+2_460+3del
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn) rs141704244
NM_001130987.2(DYSF):c.5004-2A>G rs2094956322
NM_001130987.2(DYSF):c.5086G>A (p.Glu1696Lys)
NM_001130987.2(DYSF):c.5174+2T>C rs1553412826
NM_001130987.2(DYSF):c.5174+5G>T rs745891180
NM_001130987.2(DYSF):c.5175-2A>G
NM_001130987.2(DYSF):c.5210C>G (p.Pro1737Arg) rs776452710
NM_001130987.2(DYSF):c.5413G>A (p.Glu1805Lys)
NM_001130987.2(DYSF):c.5420G>C (p.Arg1807Pro)
NM_001130987.2(DYSF):c.5546+1G>A rs398123793
NM_001130987.2(DYSF):c.5547-2A>G rs1238293747
NM_001130987.2(DYSF):c.5626G>C (p.Asp1876His)
NM_001130987.2(DYSF):c.5635G>A (p.Val1879Met) rs886042880
NM_001130987.2(DYSF):c.5643-2A>C
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs) rs1553416039
NM_001130987.2(DYSF):c.5681A>T (p.Asp1894Val) rs1553416071
NM_001130987.2(DYSF):c.5711G>A (p.Gly1904Asp) rs1024524968
NM_001130987.2(DYSF):c.5729T>C (p.Phe1910Ser) rs2095084796
NM_001130987.2(DYSF):c.5785-1G>C rs751473506
NM_001130987.2(DYSF):c.5785-2A>C rs2152961243
NM_001130987.2(DYSF):c.5858A>G (p.Asp1953Gly)
NM_001130987.2(DYSF):c.5885-1G>A
NM_001130987.2(DYSF):c.5921C>T (p.Pro1974Leu) rs1573176526
NM_001130987.2(DYSF):c.6173+1G>A
NM_001130987.2(DYSF):c.6173+2del
NM_001130987.2(DYSF):c.6305T>G (p.Phe2102Cys)
NM_001130987.2(DYSF):c.754_759+5del rs1433612344
NM_001130987.2(DYSF):c.759G>C (p.Gln253His) rs886044472
NM_001130987.2(DYSF):c.796G>T (p.Gly266Trp) rs1573657614
NM_001130987.2(DYSF):c.797G>C (p.Gly266Ala)
NM_001130987.2(DYSF):c.875C>T (p.Pro292Leu)
NM_001130987.2(DYSF):c.952-2A>G rs1553522730
NM_003494.4(DYSF):c.1522+1G>A rs1473130799

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