ClinVar Miner

List of variants in gene DIAPH3 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 194
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001042517.2(DIAPH3):c.701T>C (p.Ile234Thr) rs200839105 0.00039
NM_001042517.2(DIAPH3):c.3125G>A (p.Arg1042His) rs200189161 0.00036
NM_001042517.2(DIAPH3):c.2546del (p.Tyr849fs) rs749295034 0.00033
NM_001042517.2(DIAPH3):c.3352C>T (p.Arg1118Cys) rs76626460 0.00029
NM_001042517.2(DIAPH3):c.1808G>A (p.Arg603Gln) rs200231889 0.00027
NM_001042517.2(DIAPH3):c.2260A>T (p.Ile754Phe) rs367922833 0.00025
NM_001042517.2(DIAPH3):c.3283A>G (p.Met1095Val) rs199814282 0.00021
NM_001042517.2(DIAPH3):c.1291A>G (p.Thr431Ala) rs746390263 0.00019
NM_001042517.2(DIAPH3):c.3142C>T (p.Arg1048Cys) rs200684775 0.00019
NM_001042517.2(DIAPH3):c.357G>C (p.Glu119Asp) rs200771789 0.00018
NM_001042517.2(DIAPH3):c.3080G>A (p.Arg1027His) rs142015799 0.00017
NM_001042517.2(DIAPH3):c.1499C>T (p.Ala500Val) rs375508200 0.00016
NM_001042517.2(DIAPH3):c.388A>G (p.Met130Val) rs200174324 0.00016
NM_001042517.2(DIAPH3):c.203C>T (p.Thr68Met) rs369972341 0.00014
NM_001042517.2(DIAPH3):c.1481-7A>G rs534979056 0.00011
NM_001042517.2(DIAPH3):c.2096T>C (p.Ile699Thr) rs199556306 0.00011
NM_001042517.2(DIAPH3):c.2750C>T (p.Thr917Met) rs372502709 0.00011
NM_001042517.2(DIAPH3):c.686T>C (p.Leu229Pro) rs201688909 0.00011
NM_001042517.2(DIAPH3):c.3124C>T (p.Arg1042Cys) rs760815388 0.00010
NM_001042517.2(DIAPH3):c.829G>A (p.Val277Met) rs200982440 0.00009
NM_001042517.2(DIAPH3):c.1583C>G (p.Ala528Gly) rs777895599 0.00008
NM_001042517.2(DIAPH3):c.2245T>A (p.Leu749Met) rs778021540 0.00007
NM_001042517.2(DIAPH3):c.2945T>C (p.Ile982Thr) rs754642174 0.00007
NM_001042517.2(DIAPH3):c.2121A>C (p.Lys707Asn) rs776010269 0.00006
NM_001042517.2(DIAPH3):c.1157A>G (p.Asp386Gly) rs368310391 0.00005
NM_001042517.2(DIAPH3):c.1362-19C>G rs370844366 0.00005
NM_001042517.2(DIAPH3):c.1925C>G (p.Pro642Arg) rs369041383 0.00005
NM_001042517.2(DIAPH3):c.2359G>T (p.Val787Leu) rs759861398 0.00004
NM_001042517.2(DIAPH3):c.2726A>G (p.Lys909Arg) rs752800540 0.00004
NM_001042517.2(DIAPH3):c.2890T>C (p.Tyr964His) rs368173151 0.00004
NM_001042517.2(DIAPH3):c.3082G>A (p.Val1028Ile) rs541616926 0.00004
NM_001042517.2(DIAPH3):c.940G>A (p.Ala314Thr) rs200055625 0.00004
NM_001042517.2(DIAPH3):c.1217G>A (p.Arg406His) rs374035547 0.00003
NM_001042517.2(DIAPH3):c.1269G>A (p.Met423Ile) rs374336128 0.00003
NM_001042517.2(DIAPH3):c.1969C>T (p.His657Tyr) rs771360069 0.00003
NM_001042517.2(DIAPH3):c.2106G>T (p.Lys702Asn) rs1030699025 0.00003
NM_001042517.2(DIAPH3):c.2201A>C (p.Tyr734Ser) rs749502845 0.00003
NM_001042517.2(DIAPH3):c.3208del (p.Gln1070fs) rs751075566 0.00003
NM_001042517.2(DIAPH3):c.3248C>T (p.Pro1083Leu) rs376432274 0.00003
NM_001042517.2(DIAPH3):c.3571C>T (p.Arg1191Ter) rs546723182 0.00003
NM_001042517.2(DIAPH3):c.92G>A (p.Arg31Gln) rs764945684 0.00003
NM_001042517.2(DIAPH3):c.1561A>G (p.Thr521Ala) rs775151037 0.00002
NM_001042517.2(DIAPH3):c.2818C>T (p.Pro940Ser) rs201024887 0.00002
NM_001042517.2(DIAPH3):c.3439G>A (p.Gly1147Arg) rs781650639 0.00002
NM_001042517.2(DIAPH3):c.834T>A (p.Asp278Glu) rs750541040 0.00002
NM_001042517.2(DIAPH3):c.109C>T (p.Arg37Cys) rs772192013 0.00001
NM_001042517.2(DIAPH3):c.1100G>A (p.Arg367His) rs770872230 0.00001
NM_001042517.2(DIAPH3):c.1185T>G (p.His395Gln) rs140006650 0.00001
NM_001042517.2(DIAPH3):c.1191A>T (p.Glu397Asp) rs199772941 0.00001
NM_001042517.2(DIAPH3):c.1205A>C (p.Glu402Ala) rs1012408540 0.00001
NM_001042517.2(DIAPH3):c.1318A>G (p.Ile440Val) rs748882816 0.00001
NM_001042517.2(DIAPH3):c.133C>A (p.Pro45Thr) rs749626918 0.00001
NM_001042517.2(DIAPH3):c.1366C>G (p.Gln456Glu) rs776831734 0.00001
NM_001042517.2(DIAPH3):c.1410G>T (p.Leu470Phe) rs745499897 0.00001
NM_001042517.2(DIAPH3):c.1425G>A (p.Met475Ile) rs752539574 0.00001
NM_001042517.2(DIAPH3):c.1445G>A (p.Arg482Gln) rs762394580 0.00001
NM_001042517.2(DIAPH3):c.1682C>G (p.Pro561Arg) rs752119644 0.00001
NM_001042517.2(DIAPH3):c.1856T>C (p.Leu619Pro) rs1430861215 0.00001
NM_001042517.2(DIAPH3):c.2240C>T (p.Thr747Ile) rs2047210512 0.00001
NM_001042517.2(DIAPH3):c.2289T>A (p.Asp763Glu) rs779247938 0.00001
NM_001042517.2(DIAPH3):c.2452C>T (p.Pro818Ser) rs769126351 0.00001
NM_001042517.2(DIAPH3):c.2474C>T (p.Thr825Ile) rs780132485 0.00001
NM_001042517.2(DIAPH3):c.2494A>T (p.Lys832Ter) rs1213257233 0.00001
NM_001042517.2(DIAPH3):c.2508_2509dup (p.Ser837fs) rs761037817 0.00001
NM_001042517.2(DIAPH3):c.2608-3T>C rs201176225 0.00001
NM_001042517.2(DIAPH3):c.2667A>G (p.Ile889Met) rs1413001450 0.00001
NM_001042517.2(DIAPH3):c.2777G>C (p.Gly926Ala) rs199833209 0.00001
NM_001042517.2(DIAPH3):c.2875A>G (p.Ser959Gly) rs2041875425 0.00001
NM_001042517.2(DIAPH3):c.2891A>G (p.Tyr964Cys) rs374837449 0.00001
NM_001042517.2(DIAPH3):c.2914G>A (p.Glu972Lys) rs781747042 0.00001
NM_001042517.2(DIAPH3):c.31C>T (p.Pro11Ser) rs1002183897 0.00001
NM_001042517.2(DIAPH3):c.3265C>T (p.Arg1089Trp) rs1156923369 0.00001
NM_001042517.2(DIAPH3):c.3340A>G (p.Thr1114Ala) rs780627528 0.00001
NM_001042517.2(DIAPH3):c.3365A>G (p.Asn1122Ser) rs963183930 0.00001
NM_001042517.2(DIAPH3):c.3472T>C (p.Cys1158Arg) rs767517331 0.00001
NM_001042517.2(DIAPH3):c.40G>C (p.Gly14Arg) rs887315168 0.00001
NM_001042517.2(DIAPH3):c.431G>A (p.Arg144Gln) rs2058023329 0.00001
NM_001042517.2(DIAPH3):c.513C>G (p.Ser171Arg) rs1566702675 0.00001
NM_001042517.2(DIAPH3):c.514C>T (p.Arg172Ter) rs759193958 0.00001
NM_001042517.2(DIAPH3):c.545A>G (p.Glu182Gly) rs2055776558 0.00001
NM_001042517.2(DIAPH3):c.569A>G (p.Glu190Gly) rs376891394 0.00001
NM_001042517.2(DIAPH3):c.583T>A (p.Cys195Ser) rs756116902 0.00001
NM_001042517.2(DIAPH3):c.646C>A (p.His216Asn) rs770042088 0.00001
NM_001042517.2(DIAPH3):c.795T>G (p.Ser265Arg) rs1489183078 0.00001
NM_001042517.2(DIAPH3):c.992G>A (p.Arg331Gln) rs1037832135 0.00001
GRCh37/hg19 13q21.2(chr13:59668842-60305252)x3
GRCh37/hg19 13q21.2(chr13:59674028-60691612)x3
GRCh37/hg19 13q21.2(chr13:60170830-60386264)x3
GRCh37/hg19 13q21.2(chr13:60374705-60583008)x1
GRCh37/hg19 13q21.2(chr13:60420105-60594349)x1
GRCh37/hg19 13q21.2(chr13:60450342-60661812)x1
GRCh37/hg19 13q21.2(chr13:60467505-60632648)x3
GRCh37/hg19 13q21.2(chr13:60530375-60730636)x1
GRCh37/hg19 13q21.2(chr13:60592258-60680722)x1
GRCh37/hg19 13q21.2(chr13:60713376-60921593)x3
NC_000013.10:g.(?_60240718)_(60738073_?)del
NC_000013.10:g.(?_60240718)_(60738073_?)dup
NC_000013.10:g.(?_60565272)_(60566737_?)del
NC_000013.11:g.60163938C>T rs2138511736
NC_000013.11:g.60163939G>A rs2138511749
NM_001042517.2(DIAPH3):c.1006C>A (p.Gln336Lys)
NM_001042517.2(DIAPH3):c.1019C>T (p.Ala340Val) rs2051900359
NM_001042517.2(DIAPH3):c.1066G>C (p.Asp356His) rs1320429146
NM_001042517.2(DIAPH3):c.1124C>T (p.Pro375Leu)
NM_001042517.2(DIAPH3):c.1147G>A (p.Asp383Asn)
NM_001042517.2(DIAPH3):c.1267A>T (p.Met423Leu)
NM_001042517.2(DIAPH3):c.1295G>T (p.Arg432Ile)
NM_001042517.2(DIAPH3):c.1297G>A (p.Ala433Thr)
NM_001042517.2(DIAPH3):c.1311_1315del (p.Ile438fs)
NM_001042517.2(DIAPH3):c.131C>G (p.Pro44Arg)
NM_001042517.2(DIAPH3):c.1343G>A (p.Arg448Gln) rs145827856
NM_001042517.2(DIAPH3):c.1343G>C (p.Arg448Pro) rs145827856
NM_001042517.2(DIAPH3):c.1411C>T (p.His471Tyr) rs368826517
NM_001042517.2(DIAPH3):c.1456G>T (p.Asp486Tyr) rs770509780
NM_001042517.2(DIAPH3):c.1463A>G (p.Asp488Gly)
NM_001042517.2(DIAPH3):c.1465_1466del (p.Leu489fs)
NM_001042517.2(DIAPH3):c.1480+1G>T rs2051187365
NM_001042517.2(DIAPH3):c.1498G>A (p.Ala500Thr) rs2502358911
NM_001042517.2(DIAPH3):c.1545A>C (p.Lys515Asn) rs2140684263
NM_001042517.2(DIAPH3):c.1566C>G (p.Asp522Glu)
NM_001042517.2(DIAPH3):c.1568A>T (p.His523Leu) rs2502288709
NM_001042517.2(DIAPH3):c.156G>T (p.Glu52Asp) rs202198529
NM_001042517.2(DIAPH3):c.1657G>A (p.Ala553Thr) rs2050350541
NM_001042517.2(DIAPH3):c.1691C>A (p.Pro564His) rs2502251293
NM_001042517.2(DIAPH3):c.170G>A (p.Arg57His)
NM_001042517.2(DIAPH3):c.170G>T (p.Arg57Leu)
NM_001042517.2(DIAPH3):c.1825C>T (p.Pro609Ser)
NM_001042517.2(DIAPH3):c.1840C>T (p.Pro614Ser) rs200018583
NM_001042517.2(DIAPH3):c.1906C>T (p.Pro636Ser) rs990121904
NM_001042517.2(DIAPH3):c.199C>G (p.Leu67Val) rs373421558
NM_001042517.2(DIAPH3):c.2029G>C (p.Asp677His) rs1452185400
NM_001042517.2(DIAPH3):c.2054C>T (p.Thr685Ile) rs1258933191
NM_001042517.2(DIAPH3):c.2111C>T (p.Ser704Leu) rs762124184
NM_001042517.2(DIAPH3):c.2126T>C (p.Ile709Thr) rs2047679230
NM_001042517.2(DIAPH3):c.219_222del (p.Lys74fs) rs767024661
NM_001042517.2(DIAPH3):c.2241_2243del (p.Arg748del)
NM_001042517.2(DIAPH3):c.2257A>G (p.Met753Val)
NM_001042517.2(DIAPH3):c.2266-2A>G rs1593949468
NM_001042517.2(DIAPH3):c.2271A>C (p.Leu757Phe) rs2140238192
NM_001042517.2(DIAPH3):c.2324G>C (p.Ser775Thr) rs1344736987
NM_001042517.2(DIAPH3):c.2387T>C (p.Leu796Pro)
NM_001042517.2(DIAPH3):c.2401A>C (p.Ser801Arg) rs1213603917
NM_001042517.2(DIAPH3):c.2480G>T (p.Cys827Phe) rs2044848531
NM_001042517.2(DIAPH3):c.2563C>T (p.Arg855Trp)
NM_001042517.2(DIAPH3):c.2629G>T (p.Asp877Tyr) rs748797648
NM_001042517.2(DIAPH3):c.2678A>G (p.Lys893Arg) rs2043582387
NM_001042517.2(DIAPH3):c.2737+94C>T rs867038222
NM_001042517.2(DIAPH3):c.2750C>G (p.Thr917Arg) rs372502709
NM_001042517.2(DIAPH3):c.2803G>A (p.Glu935Lys)
NM_001042517.2(DIAPH3):c.2872A>T (p.Ile958Phe) rs761721396
NM_001042517.2(DIAPH3):c.2920A>G (p.Met974Val) rs2139723667
NM_001042517.2(DIAPH3):c.2923G>T (p.Glu975Ter) rs2502643410
NM_001042517.2(DIAPH3):c.3027+1G>T rs759339741
NM_001042517.2(DIAPH3):c.3027+4T>C rs1188964362
NM_001042517.2(DIAPH3):c.3028C>A (p.Gln1010Lys) rs1330526168
NM_001042517.2(DIAPH3):c.3050A>G (p.Lys1017Arg)
NM_001042517.2(DIAPH3):c.3055dup (p.Arg1019fs) rs753024929
NM_001042517.2(DIAPH3):c.3058G>A (p.Glu1020Lys) rs2502465658
NM_001042517.2(DIAPH3):c.3068A>G (p.Glu1023Gly)
NM_001042517.2(DIAPH3):c.3119T>C (p.Leu1040Pro)
NM_001042517.2(DIAPH3):c.3121G>A (p.Glu1041Lys) rs371429652
NM_001042517.2(DIAPH3):c.3130C>G (p.Gln1044Glu) rs767533339
NM_001042517.2(DIAPH3):c.3142C>G (p.Arg1048Gly) rs200684775
NM_001042517.2(DIAPH3):c.3143G>A (p.Arg1048His)
NM_001042517.2(DIAPH3):c.3163+1G>A
NM_001042517.2(DIAPH3):c.3167G>C (p.Gly1056Ala) rs1245069375
NM_001042517.2(DIAPH3):c.3260-1G>A rs1361545813
NM_001042517.2(DIAPH3):c.3266G>A (p.Arg1089Gln) rs759456145
NM_001042517.2(DIAPH3):c.3266G>C (p.Arg1089Pro) rs759456145
NM_001042517.2(DIAPH3):c.3278_3279delinsTG (p.Ser1093Met) rs2502160181
NM_001042517.2(DIAPH3):c.3320-3T>C rs928385662
NM_001042517.2(DIAPH3):c.3371A>T (p.Asn1124Ile) rs2501341716
NM_001042517.2(DIAPH3):c.3397G>A (p.Ala1133Thr) rs188721921
NM_001042517.2(DIAPH3):c.3427C>A (p.His1143Asn)
NM_001042517.2(DIAPH3):c.3497del (p.Lys1166fs) rs749399334
NM_001042517.2(DIAPH3):c.3543dup (p.Glu1182fs) rs756660986
NM_001042517.2(DIAPH3):c.3579A>C (p.Leu1193Phe)
NM_001042517.2(DIAPH3):c.445A>C (p.Ser149Arg) rs1188611525
NM_001042517.2(DIAPH3):c.494del (p.Thr165fs) rs2500968736
NM_001042517.2(DIAPH3):c.566A>G (p.Asp189Gly) rs369191795
NM_001042517.2(DIAPH3):c.599G>A (p.Arg200Gln)
NM_001042517.2(DIAPH3):c.617A>G (p.Asn206Ser)
NM_001042517.2(DIAPH3):c.646C>T (p.His216Tyr) rs770042088
NM_001042517.2(DIAPH3):c.685C>G (p.Leu229Val) rs368324182
NM_001042517.2(DIAPH3):c.71C>T (p.Ser24Leu) rs1219630512
NM_001042517.2(DIAPH3):c.771+1G>A rs2502756344
NM_001042517.2(DIAPH3):c.792G>C (p.Met264Ile) rs201731537
NM_001042517.2(DIAPH3):c.83_84delinsAA (p.Arg28Gln) rs2138509335
NM_001042517.2(DIAPH3):c.848A>G (p.Asn283Ser) rs1199116344
NM_001042517.2(DIAPH3):c.920T>C (p.Val307Ala) rs2140936817
NM_001042517.2(DIAPH3):c.927del (p.Ala310fs) rs1416551314
NM_001042517.2(DIAPH3):c.955A>G (p.Lys319Glu) rs2502662715
NM_001042517.2(DIAPH3):c.958del (p.Ile320fs) rs755069320
NM_001042517.2(DIAPH3):c.958dup (p.Ile320fs) rs755069320

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.