ClinVar Miner

List of variants in gene DYSF reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val) rs74423119 0.00327
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp) rs146970014 0.00059
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717 0.00044
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu) rs139411595 0.00043
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser) rs149768871 0.00024
NM_001130987.2(DYSF):c.350C>T (p.Ser117Leu) rs199677396 0.00018
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His) rs147678255 0.00014
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln) rs140002194 0.00014
NM_001130987.2(DYSF):c.3541G>A (p.Asp1181Asn) rs139194093 0.00013
NM_003494.4(DYSF):c.1508C>T (p.Ser503Leu) rs144931729 0.00013
NM_001130987.2(DYSF):c.1406C>T (p.Thr469Met) rs376358025 0.00012
NM_001130987.2(DYSF):c.2593C>T (p.Arg865Trp) rs200487610 0.00012
NM_001130987.2(DYSF):c.2485G>A (p.Ala829Thr) rs562925562 0.00009
NM_001130987.2(DYSF):c.2725G>A (p.Val909Ile) rs201622087 0.00009
NM_001130987.2(DYSF):c.395C>G (p.Pro132Arg) rs775881095 0.00009
NM_001130987.2(DYSF):c.4874G>A (p.Arg1625Gln) rs538781815 0.00009
NM_001130987.2(DYSF):c.5389C>G (p.Gln1797Glu) rs370866476 0.00009
NM_001130987.2(DYSF):c.2590G>A (p.Ala864Thr) rs143632564 0.00008
NM_001130987.2(DYSF):c.132C>A (p.Asn44Lys) rs772240035 0.00005
NM_001130987.2(DYSF):c.3185G>A (p.Arg1062His) rs779159879 0.00004
NM_001130987.2(DYSF):c.3239C>T (p.Ala1080Val) rs562368641 0.00004
NM_001130987.2(DYSF):c.3331C>T (p.Arg1111Cys) rs372817333 0.00004
NM_001130987.2(DYSF):c.4292G>A (p.Arg1431His) rs768354800 0.00004
NM_001130987.2(DYSF):c.4586A>T (p.Lys1529Met) rs527574888 0.00004
NM_001130987.2(DYSF):c.2038T>A (p.Ser680Thr) rs765027098 0.00003
NM_001130987.2(DYSF):c.2482C>T (p.Pro828Ser) rs146819460 0.00003
NM_001130987.2(DYSF):c.2611C>T (p.Arg871Trp) rs749542779 0.00003
NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met) rs769739410 0.00003
NM_001130987.2(DYSF):c.346G>A (p.Ala116Thr) rs748951363 0.00003
NM_001130987.2(DYSF):c.3506G>A (p.Arg1169His) rs780134612 0.00003
NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln) rs747583441 0.00003
NM_001130987.2(DYSF):c.4423C>T (p.Leu1475Phe) rs367709130 0.00003
NM_001130987.2(DYSF):c.2750T>A (p.Leu917His) rs768637531 0.00002
NM_001130987.2(DYSF):c.289A>C (p.Ser97Arg) rs762400168 0.00002
NM_001130987.2(DYSF):c.3356T>A (p.Leu1119Gln) rs776495155 0.00002
NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln) rs957111625 0.00002
NM_001130987.2(DYSF):c.1229G>A (p.Gly410Glu) rs746610724 0.00001
NM_001130987.2(DYSF):c.1822C>T (p.Arg608Cys) rs745472489 0.00001
NM_001130987.2(DYSF):c.2206G>A (p.Ala736Thr) rs1042263359 0.00001
NM_001130987.2(DYSF):c.2657A>G (p.Asn886Ser) rs559305759 0.00001
NM_001130987.2(DYSF):c.4191C>A (p.Asn1397Lys) rs536906283 0.00001
NM_001130987.2(DYSF):c.4455C>G (p.Ile1485Met) rs758226677 0.00001
NM_001130987.2(DYSF):c.5410G>A (p.Val1804Met) rs773089790 0.00001
NM_001130987.2(DYSF):c.5450T>G (p.Ile1817Ser) rs753632964 0.00001
NM_001130987.2(DYSF):c.1252T>C (p.Phe418Leu)
NM_001130987.2(DYSF):c.1256G>T (p.Arg419Leu)
NM_001130987.2(DYSF):c.1332G>T (p.Lys444Asn) rs886043169
NM_001130987.2(DYSF):c.1409C>T (p.Ala470Val)
NM_001130987.2(DYSF):c.1676A>G (p.Glu559Gly) rs541663451
NM_001130987.2(DYSF):c.1694G>A (p.Gly565Glu)
NM_001130987.2(DYSF):c.1883C>G (p.Ala628Gly)
NM_001130987.2(DYSF):c.2194G>A (p.Asp732Asn)
NM_001130987.2(DYSF):c.2476C>T (p.Arg826Trp) rs1345130790
NM_001130987.2(DYSF):c.2500T>C (p.Phe834Leu)
NM_001130987.2(DYSF):c.2777C>T (p.Thr926Met)
NM_001130987.2(DYSF):c.2803A>C (p.Ser935Arg)
NM_001130987.2(DYSF):c.296C>T (p.Ser99Phe)
NM_001130987.2(DYSF):c.3269C>G (p.Ala1090Gly)
NM_001130987.2(DYSF):c.3380T>G (p.Val1127Gly)
NM_001130987.2(DYSF):c.3493G>C (p.Asp1165His) rs761528558
NM_001130987.2(DYSF):c.3755A>G (p.Tyr1252Cys)
NM_001130987.2(DYSF):c.3881T>A (p.Leu1294His)
NM_001130987.2(DYSF):c.3958T>C (p.Ser1320Pro) rs794727597
NM_001130987.2(DYSF):c.4178G>A (p.Arg1393Gln)
NM_001130987.2(DYSF):c.4390G>A (p.Asp1464Asn) rs927765259
NM_001130987.2(DYSF):c.4613T>C (p.Phe1538Ser)
NM_001130987.2(DYSF):c.4622T>C (p.Leu1541Pro)
NM_001130987.2(DYSF):c.5040G>T (p.Lys1680Asn)
NM_001130987.2(DYSF):c.5261T>G (p.Val1754Gly)
NM_001130987.2(DYSF):c.5483T>A (p.Leu1828Gln)
NM_001130987.2(DYSF):c.5651T>C (p.Ile1884Thr)
NM_001130987.2(DYSF):c.5753C>T (p.Pro1918Leu)
NM_001130987.2(DYSF):c.5777C>A (p.Ala1926Asp)
NM_001130987.2(DYSF):c.6154C>G (p.Pro2052Ala)
NM_001130987.2(DYSF):c.6323A>G (p.Asn2108Ser) rs1442725303

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