ClinVar Miner

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

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Total variants: 49
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HGVS dbSNP
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.1002+4A>G
NM_001130987.2(DYSF):c.1003-2A>G rs1559065297
NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg) rs766891289
NM_001130987.2(DYSF):c.1149+1G>A rs398123763
NM_001130987.2(DYSF):c.1150-43_1155delinsA rs1573743003
NM_001130987.2(DYSF):c.1276+5G>C rs766433603
NM_001130987.2(DYSF):c.1493+1G>A rs1553536007
NM_001130987.2(DYSF):c.157T>A (p.Trp53Arg) rs1553508863
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) rs121908962
NM_001130987.2(DYSF):c.1806+2T>G
NM_001130987.2(DYSF):c.1985-2del rs774047700
NM_001130987.2(DYSF):c.2409+1G>A rs151317754
NM_001130987.2(DYSF):c.2697+5G>C
NM_001130987.2(DYSF):c.2864+5G>A rs886044131
NM_001130987.2(DYSF):c.2980-1G>C
NM_001130987.2(DYSF):c.3086-2A>G
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp) rs1553556116
NM_001130987.2(DYSF):c.3228+1G>A
NM_001130987.2(DYSF):c.345+2T>C
NM_001130987.2(DYSF):c.3498T>A (p.Tyr1166Ter) rs758944159
NM_001130987.2(DYSF):c.3574+1G>A
NM_001130987.2(DYSF):c.3575-1G>A
NM_001130987.2(DYSF):c.3957+2T>G
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys) rs758993965
NM_001130987.2(DYSF):c.4387+2T>C
NM_001130987.2(DYSF):c.4528-2A>G rs1213965862
NM_001130987.2(DYSF):c.460+1G>A rs1278864604
NM_001130987.2(DYSF):c.4911+1G>T rs777216777
NM_001130987.2(DYSF):c.5004-2A>G
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) rs148860301
NM_001130987.2(DYSF):c.5458-1G>A rs886042879
NM_001130987.2(DYSF):c.5458-2A>C rs398123792
NM_001130987.2(DYSF):c.5546+1G>A
NM_001130987.2(DYSF):c.5547-2A>G
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs) rs1553416039
NM_001130987.2(DYSF):c.5785-1G>C rs751473506
NM_001130987.2(DYSF):c.5785-2A>C
NM_001130987.2(DYSF):c.5884+1G>A rs756689063
NM_001130987.2(DYSF):c.754_759+5del
NM_001130987.2(DYSF):c.759G>C (p.Gln253His) rs886044472
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) rs149827237
NM_001130987.2(DYSF):c.889-2A>G rs934428561
NM_003494.4(DYSF):c.2T>C (p.Met1Thr) rs1459713589

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