ClinVar Miner

List of variants in gene ACSF3 reported by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 138
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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.5T>C (p.Leu2Pro) rs7188200 0.72412
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.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.1347G>A (p.Leu449=) rs12447947 0.24857
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu) rs143793502 0.09373
NM_001243279.3(ACSF3):c.49G>C (p.Ala17Pro) rs11547019 0.03850
NM_001243279.3(ACSF3):c.1367-6C>T rs113343336 0.00901
NM_001243279.3(ACSF3):c.600C>G (p.Ile200Met) rs147597284 0.00391
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.1672C>T (p.Arg558Trp) rs141090143 0.00278
NM_001243279.3(ACSF3):c.*4G>A rs184912682 0.00069
NM_001243279.3(ACSF3):c.823-4G>C rs558325262 0.00067
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=) rs140941507 0.00061
NM_001243279.3(ACSF3):c.855G>A (p.Pro285=) rs780294227 0.00043
NM_001243279.3(ACSF3):c.857G>A (p.Arg286Gln) rs371654377 0.00034
NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr) rs375374971 0.00031
NM_001243279.3(ACSF3):c.1502-4G>A rs111414659 0.00024
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=) rs539500659 0.00020
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796 0.00019
NM_001243279.3(ACSF3):c.1456G>A (p.Ala486Thr) rs192339782 0.00019
NM_001243279.3(ACSF3):c.1562C>G (p.Thr521Ser) rs201022212 0.00019
NM_001243279.3(ACSF3):c.497C>T (p.Pro166Leu) rs781425127 0.00019
NM_001243279.3(ACSF3):c.721G>A (p.Val241Met) rs145141190 0.00019
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=) rs147915828 0.00018
NM_001243279.3(ACSF3):c.1613+3A>C rs373631805 0.00018
NM_001243279.3(ACSF3):c.933G>A (p.Pro311=) rs150686471 0.00018
NM_001243279.3(ACSF3):c.1334G>A (p.Ser445Asn) rs142092069 0.00016
NM_001243279.3(ACSF3):c.358G>A (p.Gly120Ser) rs200703917 0.00016
NM_001243279.3(ACSF3):c.1197C>T (p.Cys399=) rs768148002 0.00015
NM_001243279.3(ACSF3):c.285G>A (p.Glu95=) rs187962814 0.00015
NM_001243279.3(ACSF3):c.120G>A (p.Ser40=) rs34972688 0.00014
NM_001243279.3(ACSF3):c.1394A>G (p.Gln465Arg) rs200971130 0.00014
NM_001243279.3(ACSF3):c.1613+8T>G rs1358602745 0.00014
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=) rs200146632 0.00013
NM_001243279.3(ACSF3):c.1643C>T (p.Ser548Leu) rs139520739 0.00012
NM_001243279.3(ACSF3):c.42C>T (p.Cys14=) rs756300619 0.00012
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.145C>T (p.Arg49Cys) rs141518662 0.00011
NM_001243279.3(ACSF3):c.278T>A (p.Leu93His) rs143605434 0.00011
NM_001243279.3(ACSF3):c.561C>T (p.Val187=) rs113731967 0.00011
NM_001243279.3(ACSF3):c.625C>G (p.Pro209Ala) rs201953109 0.00011
NM_001243279.3(ACSF3):c.1127-5T>C rs200245960 0.00010
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.527C>A (p.Thr176Asn) rs368696141 0.00010
NM_001243279.3(ACSF3):c.122A>T (p.Asp41Val) rs545886514 0.00009
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=) rs150374081 0.00009
NM_001243279.3(ACSF3):c.130G>A (p.Ala44Thr) rs759448696 0.00007
NM_001243279.3(ACSF3):c.943G>A (p.Asp315Asn) rs774006607 0.00006
NM_001243279.3(ACSF3):c.194G>A (p.Arg65His) rs745633046 0.00005
NM_001243279.3(ACSF3):c.390C>T (p.Pro130=) rs368192538 0.00005
NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys) rs570233664 0.00005
NM_001243279.3(ACSF3):c.116G>A (p.Arg39His) rs144711526 0.00004
NM_001243279.3(ACSF3):c.1238A>T (p.Lys413Met) rs201003194 0.00004
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=) rs766713747 0.00004
NM_001243279.3(ACSF3):c.1251G>T (p.Gly417=) rs3743984 0.00004
NM_001243279.3(ACSF3):c.1375G>A (p.Val459Met) rs200029061 0.00004
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370 0.00004
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp) rs761852278 0.00004
NM_001243279.3(ACSF3):c.1703C>T (p.Ala568Val) rs142633119 0.00004
NM_001243279.3(ACSF3):c.1721dup (p.His574fs) rs768886326 0.00004
NM_001243279.3(ACSF3):c.506C>T (p.Pro169Leu) rs377732201 0.00004
NM_001243279.3(ACSF3):c.666+9C>T rs767663198 0.00004
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=) rs377354800 0.00004
NM_001243279.3(ACSF3):c.936C>T (p.His312=) rs202119269 0.00004
NM_001243279.3(ACSF3):c.*10C>T rs199783009 0.00003
NM_001243279.3(ACSF3):c.134C>T (p.Pro45Leu) rs767348758 0.00003
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=) rs375187216 0.00003
NM_001243279.3(ACSF3):c.18G>A (p.Val6=) rs375071176 0.00003
NM_001243279.3(ACSF3):c.29G>A (p.Arg10Gln) rs751551226 0.00003
NM_001243279.3(ACSF3):c.66G>A (p.Ala22=) rs751461445 0.00003
NM_001243279.3(ACSF3):c.86G>C (p.Ser29Thr) rs754161182 0.00003
NM_001243279.3(ACSF3):c.953G>A (p.Arg318His) rs200352879 0.00003
NM_001243279.3(ACSF3):c.123C>G (p.Asp41Glu) rs901883302 0.00002
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.313G>A (p.Asp105Asn) rs145969050 0.00002
NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter) rs142575695 0.00002
NM_001243279.3(ACSF3):c.480C>T (p.Val160=) rs375671065 0.00002
NM_001243279.3(ACSF3):c.522C>G (p.Ile174Met) rs1456986518 0.00002
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter) rs145583876 0.00002
NM_001243279.3(ACSF3):c.1127-7C>G rs761564953 0.00001
NM_001243279.3(ACSF3):c.119C>T (p.Ser40Leu) rs747598756 0.00001
NM_001243279.3(ACSF3):c.1366+8C>T rs773327286 0.00001
NM_001243279.3(ACSF3):c.1374C>T (p.Thr458=) rs761654873 0.00001
NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter) rs387907118 0.00001
NM_001243279.3(ACSF3):c.1580C>G (p.Ser527Ter) rs1457774840 0.00001
NM_001243279.3(ACSF3):c.1621C>T (p.Leu541=) rs149803422 0.00001
NM_001243279.3(ACSF3):c.179T>G (p.Val60Gly) rs780402535 0.00001
NM_001243279.3(ACSF3):c.190G>A (p.Gly64Ser) rs200536797 0.00001
NM_001243279.3(ACSF3):c.356G>A (p.Gly119Asp) rs754782061 0.00001
NM_001243279.3(ACSF3):c.357C>T (p.Gly119=) rs182147718 0.00001
NM_001243279.3(ACSF3):c.431C>T (p.Ser144Phe) rs774006659 0.00001
NM_001243279.3(ACSF3):c.436G>A (p.Val146Ile) rs1184480709 0.00001
NM_001243279.3(ACSF3):c.507G>A (p.Pro169=) rs775166866 0.00001
NM_001243279.3(ACSF3):c.673G>A (p.Gly225Arg) rs775694971 0.00001
NM_001243279.3(ACSF3):c.701A>T (p.Lys234Ile) rs763367217 0.00001
NM_001243279.3(ACSF3):c.705C>T (p.Asp235=) rs766852572 0.00001
NM_001243279.3(ACSF3):c.738C>T (p.His246=) rs112722289 0.00001
NM_001243279.3(ACSF3):c.877G>A (p.Val293Met) rs770598442 0.00001
NM_001243279.3(ACSF3):c.-10T>G rs781454948
NM_001243279.3(ACSF3):c.-8T>A rs1210097201
NM_001243279.3(ACSF3):c.1127-9C>T rs536593488
NM_001243279.3(ACSF3):c.1224C>T (p.Asp408=) rs1047268029
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.135G>A (p.Pro45=) rs775551806
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.1571A>G (p.Glu524Gly) rs755493108
NM_001243279.3(ACSF3):c.1613+11_1613+12insGGGG rs1912893103
NM_001243279.3(ACSF3):c.1613+7C>G rs1179755069
NM_001243279.3(ACSF3):c.1613+7_1613+8del rs1912892212
NM_001243279.3(ACSF3):c.1613+8T>A rs1358602745
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro) rs140328142
NM_001243279.3(ACSF3):c.1718del (p.Phe573fs) rs796051924
NM_001243279.3(ACSF3):c.251G>A (p.Arg84Lys) rs373476048
NM_001243279.3(ACSF3):c.280C>T (p.Arg94Trp) rs530503915
NM_001243279.3(ACSF3):c.283G>C (p.Glu95Gln) rs751929678
NM_001243279.3(ACSF3):c.291G>C (p.Arg97Ser) rs1299639090
NM_001243279.3(ACSF3):c.342G>A (p.Ala114=) rs6500527
NM_001243279.3(ACSF3):c.541G>A (p.Glu181Lys) rs1567685421
NM_001243279.3(ACSF3):c.557C>T (p.Pro186Leu) rs376098216
NM_001243279.3(ACSF3):c.579G>A (p.Arg193=) rs528237336
NM_001243279.3(ACSF3):c.618G>A (p.Thr206=) rs753012038
NM_001243279.3(ACSF3):c.667-9C>T rs369865917
NM_001243279.3(ACSF3):c.682C>G (p.His228Asp) rs1597898108
NM_001243279.3(ACSF3):c.691G>A (p.Ala231Thr) rs765454020
NM_001243279.3(ACSF3):c.729G>A (p.Pro243=) rs768799062
NM_001243279.3(ACSF3):c.782G>C (p.Gly261Ala) rs1277612080
NM_001243279.3(ACSF3):c.825T>C (p.Val275=) rs751299343

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