ClinVar Miner

List of variants in gene ACSF3 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_001243279.3(ACSF3):c.51G>C (p.Ala17=) rs7201122 0.91794
NM_001243279.3(ACSF3):c.977+185T>C rs4782329 0.75837
NM_001243279.3(ACSF3):c.-20-238G>A rs12445614 0.74599
NM_001243279.3(ACSF3):c.5T>C (p.Leu2Pro) rs7188200 0.72412
NM_001243279.3(ACSF3):c.-20-129C>T rs7195892 0.72305
NM_001243279.3(ACSF3):c.-20-4C>G rs57558972 0.72289
NM_001243279.3(ACSF3):c.-20-263A>G rs12449019 0.72281
NM_001243279.3(ACSF3):c.354T>C (p.Ser118=) rs6500528 0.72028
NM_001243279.3(ACSF3):c.342G>C (p.Ala114=) rs6500527 0.72026
NM_001243279.3(ACSF3):c.667-77G>C rs4782458 0.72002
NM_001243279.3(ACSF3):c.667-287A>G rs7194635 0.71995
NM_001243279.3(ACSF3):c.315T>C (p.Asp105=) rs7193255 0.71937
NM_001243279.3(ACSF3):c.369C>A (p.Val123=) rs6500529 0.71928
NM_001243279.3(ACSF3):c.306C>T (p.Cys102=) rs6500526 0.71888
NM_001243279.3(ACSF3):c.822+38C>G rs4782456 0.71783
NM_001243279.3(ACSF3):c.822+145T>C rs4782455 0.71040
NM_001243279.3(ACSF3):c.667-31T>C rs4782457 0.71038
NM_001243279.3(ACSF3):c.667-101T>C rs7200676 0.71025
NM_001243279.3(ACSF3):c.666+37C>T rs8060043 0.70606
NM_001243279.3(ACSF3):c.1239+57G>C rs3743983 0.70590
NM_001243279.3(ACSF3):c.822+53_822+54del rs10578141 0.69831
NM_001243279.3(ACSF3):c.977+119A>G rs4782449 0.68672
NM_001243279.3(ACSF3):c.-194+48A>G rs9938075 0.67893
NM_001243279.3(ACSF3):c.666+199T>C rs7194257 0.67347
NM_001243279.3(ACSF3):c.1347G>A (p.Leu449=) rs12447947 0.24857
NM_001243279.3(ACSF3):c.-193-25C>A rs36099289 0.15162
NM_001243279.3(ACSF3):c.667-289C>T rs71387680 0.11988
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu) rs143793502 0.09373
NM_001243279.3(ACSF3):c.666+73C>T rs61729367 0.05813
NM_001243279.3(ACSF3):c.1367-183G>A rs73256070 0.05368
NM_001243279.3(ACSF3):c.1501+210A>G rs72817501 0.04278
NM_001243279.3(ACSF3):c.*231G>A rs1054747 0.04215
NM_001243279.3(ACSF3):c.1367-222G>A rs72817500 0.04215
NM_001243279.3(ACSF3):c.1614-25C>T rs72819316 0.04212
NM_001243279.3(ACSF3):c.1614-338C>G rs74659525 0.04203
NM_001243279.3(ACSF3):c.1127-341C>T rs72817472 0.03850
NM_001243279.3(ACSF3):c.49G>C (p.Ala17Pro) rs11547019 0.03850
NM_001243279.3(ACSF3):c.-20-82G>A rs72817434 0.03828
NM_001243279.3(ACSF3):c.1240-339G>A rs12927059 0.03644
NM_001243279.3(ACSF3):c.*265C>A rs113165822 0.03574
NM_001243279.3(ACSF3):c.667-12C>T rs72817437 0.03381
NM_001243279.3(ACSF3):c.822+117G>A rs72817438 0.03371
NM_001243279.3(ACSF3):c.823-52C>T rs72817452 0.03337
NM_001243279.3(ACSF3):c.*73C>T rs79800328 0.02543
NM_001243279.3(ACSF3):c.1367-13C>G rs140859425 0.02493
NM_001243279.3(ACSF3):c.1614-220T>C rs117117251 0.01996
NM_001243279.3(ACSF3):c.1614-321G>A rs117877906 0.01991
NM_001243279.3(ACSF3):c.297C>T (p.Ser99=) rs59213357 0.01079
NM_001243279.3(ACSF3):c.822+106T>C rs78898590 0.01070
NM_001243279.3(ACSF3):c.1240-22C>T rs118065221 0.01069
NM_001243279.3(ACSF3):c.667-13T>C rs139367843 0.00923
NM_001243279.3(ACSF3):c.1240-130C>T rs73254074 0.00918
NM_001243279.3(ACSF3):c.-194+84T>A rs142287889 0.00917
NM_001243279.3(ACSF3):c.1367-6C>T rs113343336 0.00901
NM_001243279.3(ACSF3):c.666+52G>A rs61729363 0.00835
NM_001243279.3(ACSF3):c.1367-67C>T rs187721910 0.00724
NM_001243279.3(ACSF3):c.1240-199G>A rs72817489 0.00696
NM_001243279.3(ACSF3):c.822+22C>T rs76192225 0.00501
NM_001243279.3(ACSF3):c.1501+41G>A rs188828813 0.00488
NM_001243279.3(ACSF3):c.-193-5G>C rs144570053 0.00485
NM_001243279.3(ACSF3):c.1613+12T>G rs1430683913 0.00466
NM_001243279.3(ACSF3):c.1614-118G>A rs113364969 0.00418
NM_001243279.3(ACSF3):c.600C>G (p.Ile200Met) rs147597284 0.00391
NM_001243279.3(ACSF3):c.-20-21C>A rs145819902 0.00383
NM_001243279.3(ACSF3):c.1134G>A (p.Val378=) rs141088268 0.00369
NM_001243279.3(ACSF3):c.1131C>T (p.Ser377=) rs138395741 0.00346
NM_001243279.3(ACSF3):c.823-26T>C rs9921293 0.00317
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00278
NM_001243279.3(ACSF3):c.1467G>C (p.Val489=) rs115776284 0.00242
NM_001243279.3(ACSF3):c.-23T>C rs189625890 0.00240
NM_001243279.3(ACSF3):c.822+18C>T rs370191947 0.00132
NM_001243279.3(ACSF3):c.-187C>T rs577925407 0.00055
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val) rs370382601 0.00053
NM_001243279.3(ACSF3):c.756C>T (p.Asn252=) rs147718091 0.00029
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796 0.00019
NM_001243279.3(ACSF3):c.721G>A (p.Val241Met) rs145141190 0.00019
NM_001243279.3(ACSF3):c.-20-6C>G rs763583313 0.00016
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp) rs202182978 0.00016
NM_001243279.3(ACSF3):c.358G>A (p.Gly120Ser) rs200703917 0.00016
NM_001243279.3(ACSF3):c.285G>A (p.Glu95=) rs187962814 0.00015
NM_001243279.3(ACSF3):c.80G>A (p.Arg27Lys) rs756279730 0.00014
NM_001243279.3(ACSF3):c.545C>T (p.Pro182Leu) rs145470870 0.00012
NM_001243279.3(ACSF3):c.796A>G (p.Met266Val) rs141607995 0.00012
NM_001243279.3(ACSF3):c.625C>G (p.Pro209Ala) rs201953109 0.00011
NM_001243279.3(ACSF3):c.1369G>A (p.Asp457Asn) rs535695991 0.00010
NM_001243279.3(ACSF3):c.312C>T (p.Asn104=) rs749994320 0.00010
NM_001243279.3(ACSF3):c.392C>T (p.Ala131Val) rs148768970 0.00007
NM_001243279.3(ACSF3):c.156C>T (p.Ala52=) rs746564011 0.00006
NM_001243279.3(ACSF3):c.116G>A (p.Arg39His) rs144711526 0.00004
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370 0.00004
NM_001243279.3(ACSF3):c.1721dup (p.His574fs) rs768886326 0.00004
NM_001243279.3(ACSF3):c.-36C>T rs1466896036 0.00003
NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp) rs563580010 0.00002
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter) rs201954387 0.00002
NM_001243279.3(ACSF3):c.1305A>T (p.Glu435Asp) rs375414491 0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119 0.00001
NM_001243279.3(ACSF3):c.1502-2A>G rs1188774860 0.00001
NM_001243279.3(ACSF3):c.1580C>G (p.Ser527Ter) rs1457774840 0.00001
NM_001243279.3(ACSF3):c.179T>G (p.Val60Gly) rs780402535 0.00001
NM_001243279.3(ACSF3):c.201G>A (p.Thr67=) rs1259149379 0.00001
NM_001243279.3(ACSF3):c.357C>T (p.Gly119=) rs182147718 0.00001
NM_001243279.3(ACSF3):c.589G>A (p.Ala197Thr) rs761573352 0.00001
NM_001243279.3(ACSF3):c.673G>A (p.Gly225Arg) rs775694971 0.00001
NM_001243279.3(ACSF3):c.706G>A (p.Asp236Asn) rs752104014 0.00001
GRCh37/hg19 16q24.3(chr16:89066987-89174140)x1
GRCh37/hg19 16q24.3(chr16:89151359-89217257)x1
GRCh37/hg19 16q24.3(chr16:89151360-89217258)x1
NC_000016.10:g.89157603C>A
NM_001243279.3(ACSF3):c.*66G>T rs146927450
NM_001243279.3(ACSF3):c.-194+57G>A rs552196056
NM_001243279.3(ACSF3):c.-30C>G rs548417953
NM_001243279.3(ACSF3):c.1239+81C>T rs146927532
NM_001243279.3(ACSF3):c.1239G>A (p.Lys413=) rs757563817
NM_001243279.3(ACSF3):c.1292C>A (p.Ser431Tyr) rs1057520194
NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro) rs137995833
NM_001243279.3(ACSF3):c.1366+220C>G rs111644287
NM_001243279.3(ACSF3):c.1367-195C>T rs11076771
NM_001243279.3(ACSF3):c.1367-264A>T rs142820005
NM_001243279.3(ACSF3):c.1378dup (p.Val460fs) rs751342087
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer) rs1064793662
NM_001243279.3(ACSF3):c.149C>T (p.Ala50Val) rs1187720594
NM_001243279.3(ACSF3):c.1502-11_1502-9del rs147884845
NM_001243279.3(ACSF3):c.1502-146A>G rs4302032
NM_001243279.3(ACSF3):c.1502-64A>T rs60881405
NM_001243279.3(ACSF3):c.1556T>G (p.Val519Gly) rs796051922
NM_001243279.3(ACSF3):c.1718del (p.Phe573fs) rs796051924
NM_001243279.3(ACSF3):c.336G>T (p.Gln112His) rs1218881155
NM_001243279.3(ACSF3):c.36G>T (p.Leu12=)
NM_001243279.3(ACSF3):c.556C>G (p.Pro186Ala)
NM_001243279.3(ACSF3):c.628A>C (p.Lys210Gln) rs538548478
NM_001243279.3(ACSF3):c.65C>T (p.Ala22Val)
NM_001243279.3(ACSF3):c.666+195G>A rs6500530
NM_001243279.3(ACSF3):c.753C>G (p.Val251=) rs1597898632
NM_001243279.3(ACSF3):c.952C>T (p.Arg318Cys)

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