ClinVar Miner

List of variants in gene DYSF reported as pathogenic by Counsyl

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Total variants: 36
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HGVS dbSNP
NM_003494.3(DYSF):c.1053+1G>A rs398123763
NM_003494.3(DYSF):c.1254delC (p.Phe419Leufs) rs766936914
NM_003494.3(DYSF):c.1353+1G>A rs1553535902
NM_003494.3(DYSF):c.1368C>A (p.Cys456Ter) rs202044973
NM_003494.3(DYSF):c.1375dup (p.Met459Asnfs) rs1236367931
NM_003494.3(DYSF):c.1392dupA (p.Asp465Argfs) rs398123767
NM_003494.3(DYSF):c.1481-1G>A rs398123770
NM_003494.3(DYSF):c.1523-2A>G rs1553542142
NM_003494.3(DYSF):c.1834C>T (p.Gln612Ter) rs746873768
NM_003494.3(DYSF):c.2494C>T (p.Gln832Ter) rs199543257
NM_003494.3(DYSF):c.2643+1G>A rs140108514
NM_003494.3(DYSF):c.2644-2A>G rs1420930684
NM_003494.3(DYSF):c.265C>T (p.Arg89Ter) rs794727636
NM_003494.3(DYSF):c.2875C>T (p.Arg959Trp) rs202218890
NM_003494.3(DYSF):c.2974T>C (p.Trp992Arg) rs750028300
NM_003494.3(DYSF):c.2997G>T (p.Trp999Cys) rs28937581
NM_003494.3(DYSF):c.3112C>T (p.Arg1038Ter) rs369607332
NM_003494.3(DYSF):c.3512_3513delCT (p.Ser1171Phefs) rs886042827
NM_003494.3(DYSF):c.353delT (p.Val118Alafs) rs398123782
NM_003494.3(DYSF):c.3601C>T (p.Gln1201Ter) rs1380642629
NM_003494.3(DYSF):c.3805G>T (p.Glu1269Ter) rs763674597
NM_003494.3(DYSF):c.3988C>T (p.Gln1330Ter) rs778092738
NM_003494.3(DYSF):c.4167+1G>C rs1474151297
NM_003494.3(DYSF):c.4756C>T (p.Arg1586Ter) rs398123789
NM_003494.3(DYSF):c.4824delG (p.Lys1609Argfs) rs1057516051
NM_003494.3(DYSF):c.5200+1G>A rs773386253
NM_003494.3(DYSF):c.526C>T (p.Gln176Ter) rs1553521017
NM_003494.3(DYSF):c.5509G>A (p.Asp1837Asn) rs398123794
NM_003494.3(DYSF):c.5713C>T (p.Arg1905Ter) rs121908959
NM_003494.3(DYSF):c.5884C>T (p.Gln1962Ter) rs1064794020
NM_003494.3(DYSF):c.610C>T (p.Arg204Ter) rs373585652
NM_003494.3(DYSF):c.6135G>A (p.Trp2045Ter) rs1553422723
NM_003494.3(DYSF):c.663+1G>C rs398123800
NM_003494.3(DYSF):c.796_797delCT (p.Leu266Phefs) rs1553522104
NM_003494.3(DYSF):c.826delG (p.Glu276Serfs) rs1553522133
NM_003494.3(DYSF):c.937+1G>A rs201869739

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