ClinVar Miner

List of variants in gene DYSF reported by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958 0.00007
NM_001130987.2(DYSF):c.2011G>A (p.Gly671Ser) rs538170367 0.00003
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter) rs727503911 0.00003
NM_001130987.2(DYSF):c.5183C>T (p.Pro1728Leu) rs542182076 0.00002
NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys) rs778673716 0.00001
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp) rs377735262 0.00001
NM_001130987.2(DYSF):c.3160A>G (p.Thr1054Ala) rs550721009 0.00001
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp) rs1553556116 0.00001
NM_001130987.2(DYSF):c.362A>C (p.Gln121Pro) rs1444283069 0.00001
NM_001130987.2(DYSF):c.460+1G>A rs1278864604 0.00001
NM_001130987.2(DYSF):c.1033+2T>C rs886042617
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg) rs766891289
NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg) rs766891289
NM_001130987.2(DYSF):c.1156A>T (p.Arg386Ter) rs2545491594
NM_001130987.2(DYSF):c.1258del (p.Ala420fs) rs779969348
NM_001130987.2(DYSF):c.1267_1276+4dup rs1573744795
NM_001130987.2(DYSF):c.1330A>T (p.Lys444Ter) rs2152751290
NM_001130987.2(DYSF):c.2697+5G>A rs2092213253
NM_001130987.2(DYSF):c.3173_3177del (p.Arg1058fs) rs2545824104
NM_001130987.2(DYSF):c.3322CGC[1] (p.Arg1109_Arg1111del) rs779680055
NM_001130987.2(DYSF):c.3381_3382del (p.Phe1128fs) rs398123780
NM_001130987.2(DYSF):c.3646A>G (p.Thr1216Ala) rs2546046243
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4550G>A (p.Trp1517Ter) rs2094528176
NM_001130987.2(DYSF):c.4911G>A (p.Lys1637=) rs141704244
NM_001130987.2(DYSF):c.5265_5280del (p.Val1754_Tyr1755insTer) rs2546547503
NM_001130987.2(DYSF):c.5719A>G (p.Asn1907Asp) rs2546579659
NM_001130987.2(DYSF):c.5757del (p.Glu1920fs) rs1573100371
NM_001130987.2(DYSF):c.888+1G>A rs886044377
NM_001130987.2(DYSF):c.952-3C>G rs2086724243
NM_001130987.2(DYSF):c.982del (p.Ala328fs) rs2545427870

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