ClinVar Miner

List of variants in gene DYSF reported by Broad Institute Rare Disease Group,Broad Institute

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Total variants: 24
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HGVS dbSNP
NM_001130987.2(DYSF):c.1490A>T (p.Asp497Val) rs1573811118
NM_001130987.2(DYSF):c.1615T>C (p.Cys539Arg) rs1573929182
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092
NM_001130987.2(DYSF):c.3113del (p.Pro1038fs) rs753711667
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter) rs369607332
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter) rs746315830
NM_001130987.2(DYSF):c.3756del (p.Thr1251_Tyr1252insTer) rs1574264671
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs) rs758107024
NM_001130987.2(DYSF):c.3991C>T (p.Gln1331Ter) rs1558613592
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs) rs1574340607
NM_001130987.2(DYSF):c.4221+5del rs1574341049
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4429G>A (p.Asp1477Asn) rs767788624
NM_001130987.2(DYSF):c.4568C>A (p.Ser1523Tyr) rs1572921644
NM_001130987.2(DYSF):c.4691del (p.Phe1564fs) rs1572994572
NM_001130987.2(DYSF):c.4822C>T (p.Gln1608Ter) rs1573009747
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001130987.2(DYSF):c.5727G>T (p.Arg1909Ser) rs1336670524
NM_001130987.2(DYSF):c.5921C>T (p.Pro1974Leu) rs1573176526
NM_001130987.2(DYSF):c.850A>G (p.Thr284Ala) rs1573658295
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser) rs777785781
NM_001130987.2(DYSF):c.951+3_951+4del rs1573663867
NM_003494.3(DYSF):c.2643+1G>A rs140108514

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