ClinVar Miner

List of variants in gene DYSF reported as likely pathogenic for not provided

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Total variants: 25
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HGVS dbSNP
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn) rs886042389
NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu575_Leu576insVal) rs1446214240
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg) rs886043900
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly) rs886042878
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu) rs773837400
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs) rs1057519132
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe) rs886042584
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser) rs1057521141
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu) rs141497053
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met) rs398123802
NM_001130987.2(DYSF):c.888+1G>A rs886044377
NM_003494.3(DYSF):c.3113G>A rs150877497
NM_003494.4(DYSF):c.1434del (p.Tyr479fs) rs786205632
NM_003494.4(DYSF):c.3118C>T (p.Arg1040Trp) rs1553556116
NM_003494.4(DYSF):c.4333+2T>A rs759939755
NM_003494.4(DYSF):c.5018del (p.Lys1673fs) rs1064797253
NM_003494.4(DYSF):c.6056G>A (p.Arg2019Lys) rs886042452
NM_003494.4(DYSF):c.631A>G (p.Lys211Glu) rs786205525
NM_003494.4(DYSF):c.757C>T (p.Arg253Trp) rs149827237
NM_003494.4(DYSF):c.89-1G>A rs786205524

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