ClinVar Miner

List of variants in gene ANO5 reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1167):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 279
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala) rs78266558 0.00922
NM_213599.3(ANO5):c.680G>C (p.Gly227Ala) rs140903276 0.00320
NM_213599.3(ANO5):c.259G>A (p.Val87Ile) rs34994927 0.00293
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu) rs148293985 0.00169
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser) rs200631556 0.00090
NM_213599.3(ANO5):c.294G>A (p.Ala98=) rs142858990 0.00065
NM_213599.3(ANO5):c.1065C>T (p.Leu355=) rs1469195279 0.00060
NM_213599.3(ANO5):c.720G>T (p.Leu240=) rs147121216 0.00037
NM_213599.3(ANO5):c.1800+16A>G rs191813328 0.00029
NM_213599.3(ANO5):c.689A>G (p.Asp230Gly) rs139259793 0.00025
NM_213599.3(ANO5):c.149G>A (p.Arg50Gln) rs370084681 0.00021
NM_213599.3(ANO5):c.279C>T (p.Asp93=) rs148516756 0.00015
NM_213599.3(ANO5):c.525C>G (p.Leu175=) rs143331003 0.00014
NM_213599.3(ANO5):c.1332+8A>G rs368857740 0.00009
NM_213599.3(ANO5):c.1845C>T (p.Thr615=) rs138731456 0.00009
NM_213599.3(ANO5):c.369G>A (p.Ser123=) rs199888040 0.00009
NM_213599.3(ANO5):c.1516A>G (p.Ser506Gly) rs141799673 0.00008
NM_213599.3(ANO5):c.570A>G (p.Gln190=) rs144159801 0.00007
NM_213599.3(ANO5):c.1125C>T (p.Ser375=) rs139458696 0.00006
NM_213599.3(ANO5):c.1361C>T (p.Thr454Met) rs148698633 0.00006
NM_213599.3(ANO5):c.2029+20T>A rs751432635 0.00006
NM_213599.3(ANO5):c.2445C>T (p.Asp815=) rs774160498 0.00006
NM_213599.3(ANO5):c.2520+19T>A rs368182764 0.00006
NM_213599.3(ANO5):c.294+9A>G rs369462468 0.00006
NM_213599.3(ANO5):c.342G>A (p.Glu114=) rs774989555 0.00006
NM_213599.3(ANO5):c.1630+12A>G rs962562580 0.00005
NM_213599.3(ANO5):c.1924C>G (p.Arg642Gly) rs146341538 0.00005
NM_213599.3(ANO5):c.2236-9dup rs777519959 0.00005
NM_213599.3(ANO5):c.1068T>C (p.Cys356=) rs971438427 0.00004
NM_213599.3(ANO5):c.129A>G (p.Glu43=) rs149627067 0.00004
NM_213599.3(ANO5):c.1407+19A>T rs773359583 0.00004
NM_213599.3(ANO5):c.1434A>C (p.Val478=) rs886044360 0.00004
NM_213599.3(ANO5):c.1482C>T (p.Phe494=) rs745446244 0.00004
NM_213599.3(ANO5):c.2275C>T (p.Leu759=) rs142231956 0.00004
NM_213599.3(ANO5):c.2388G>A (p.Ser796=) rs375857192 0.00004
NM_213599.3(ANO5):c.648+15C>A rs755901117 0.00004
NM_213599.3(ANO5):c.731A>G (p.Asn244Ser) rs761648888 0.00004
NM_213599.3(ANO5):c.1116A>G (p.Ser372=) rs151022897 0.00003
NM_213599.3(ANO5):c.1181-4A>G rs562526138 0.00003
NM_213599.3(ANO5):c.1314A>G (p.Lys438=) rs764893392 0.00003
NM_213599.3(ANO5):c.1419C>T (p.Val473=) rs201501021 0.00003
NM_213599.3(ANO5):c.234G>A (p.Arg78=) rs772355765 0.00003
NM_213599.3(ANO5):c.2484C>T (p.Val828=) rs755490355 0.00003
NM_213599.3(ANO5):c.2610A>G (p.Leu870=) rs369103376 0.00003
NM_213599.3(ANO5):c.2622G>A (p.Lys874=) rs1231236931 0.00003
NM_213599.3(ANO5):c.276A>G (p.Lys92=) rs201678262 0.00003
NM_213599.3(ANO5):c.1254A>G (p.Glu418=) rs368092838 0.00002
NM_213599.3(ANO5):c.1315T>C (p.Leu439=) rs749879718 0.00002
NM_213599.3(ANO5):c.1698A>G (p.Val566=) rs760875613 0.00002
NM_213599.3(ANO5):c.1722C>T (p.Tyr574=) rs781145099 0.00002
NM_213599.3(ANO5):c.1840T>C (p.Leu614=) rs532097575 0.00002
NM_213599.3(ANO5):c.294+18G>A rs780347617 0.00002
NM_213599.3(ANO5):c.295-16T>C rs746448319 0.00002
NM_213599.3(ANO5):c.794A>G (p.Asn265Ser) rs377553546 0.00002
NM_213599.3(ANO5):c.88-16C>A rs745357713 0.00002
NM_213599.3(ANO5):c.921T>C (p.Leu307=) rs755092814 0.00002
NM_213599.3(ANO5):c.1031C>G (p.Pro344Arg) rs541372136 0.00001
NM_213599.3(ANO5):c.1104G>A (p.Thr368=) rs764025536 0.00001
NM_213599.3(ANO5):c.1149A>T (p.Thr383=) rs184710005 0.00001
NM_213599.3(ANO5):c.1362G>A (p.Thr454=) rs747933251 0.00001
NM_213599.3(ANO5):c.1383T>C (p.Leu461=) rs1265521389 0.00001
NM_213599.3(ANO5):c.1548C>T (p.Leu516=) rs886042624 0.00001
NM_213599.3(ANO5):c.1551A>G (p.Thr517=) rs370241354 0.00001
NM_213599.3(ANO5):c.1695T>C (p.Phe565=) rs142009189 0.00001
NM_213599.3(ANO5):c.1767C>T (p.Tyr589=) rs188150039 0.00001
NM_213599.3(ANO5):c.1800+12C>T rs1331521048 0.00001
NM_213599.3(ANO5):c.1801-9T>C rs202034123 0.00001
NM_213599.3(ANO5):c.181-16T>C rs762760550 0.00001
NM_213599.3(ANO5):c.181-4G>A rs186533442 0.00001
NM_213599.3(ANO5):c.1860G>A (p.Gly620=) rs886042751 0.00001
NM_213599.3(ANO5):c.1983T>A (p.Leu661=) rs944652752 0.00001
NM_213599.3(ANO5):c.19C>T (p.Leu7=) rs886044133 0.00001
NM_213599.3(ANO5):c.2139C>T (p.Thr713=) rs767479331 0.00001
NM_213599.3(ANO5):c.2175T>C (p.His725=) rs1057522538 0.00001
NM_213599.3(ANO5):c.2185G>A (p.Val729Ile) rs778772732 0.00001
NM_213599.3(ANO5):c.2235+17C>T rs769229046 0.00001
NM_213599.3(ANO5):c.2235+8G>A rs1454921320 0.00001
NM_213599.3(ANO5):c.228G>A (p.Gly76=) rs746137951 0.00001
NM_213599.3(ANO5):c.2353C>T (p.Leu785=) rs749699281 0.00001
NM_213599.3(ANO5):c.246T>C (p.Phe82=) rs1342171097 0.00001
NM_213599.3(ANO5):c.2481T>C (p.His827=) rs750804063 0.00001
NM_213599.3(ANO5):c.2521-8T>C rs767677808 0.00001
NM_213599.3(ANO5):c.258C>T (p.Tyr86=) rs747146523 0.00001
NM_213599.3(ANO5):c.2598G>A (p.Lys866=) rs1854999022 0.00001
NM_213599.3(ANO5):c.2661C>T (p.Asn887=) rs1442185727 0.00001
NM_213599.3(ANO5):c.2664G>A (p.Leu888=) rs758311698 0.00001
NM_213599.3(ANO5):c.295-4A>G rs750707593 0.00001
NM_213599.3(ANO5):c.364-8T>A rs398124624 0.00001
NM_213599.3(ANO5):c.465G>A (p.Glu155=) rs769346104 0.00001
NM_213599.3(ANO5):c.51C>A (p.Val17=) rs1564909951 0.00001
NM_213599.3(ANO5):c.567A>G (p.Ala189=) rs546565538 0.00001
NM_213599.3(ANO5):c.627A>G (p.Pro209=) rs761949902 0.00001
NM_213599.3(ANO5):c.729T>C (p.Ser243=) rs776237436 0.00001
NM_213599.3(ANO5):c.763-15C>T rs753314082 0.00001
NM_213599.3(ANO5):c.87+10A>C rs759370330 0.00001
NM_213599.3(ANO5):c.878+15C>T rs749113193 0.00001
NM_213599.3(ANO5):c.1013+20C>G
NM_213599.3(ANO5):c.1013+7G>C
NM_213599.3(ANO5):c.1014-15C>T
NM_213599.3(ANO5):c.1014-20C>T rs1309461383
NM_213599.3(ANO5):c.1014-4G>A
NM_213599.3(ANO5):c.1014-7C>A
NM_213599.3(ANO5):c.1075G>A (p.Val359Met)
NM_213599.3(ANO5):c.1086T>C (p.Tyr362=) rs139639078
NM_213599.3(ANO5):c.1119+9G>A
NM_213599.3(ANO5):c.1120-13_1120-8del rs1564936388
NM_213599.3(ANO5):c.1120-5T>C
NM_213599.3(ANO5):c.114C>T (p.Ser38=)
NM_213599.3(ANO5):c.1181-17T>C
NM_213599.3(ANO5):c.1222C>T (p.Leu408=) rs997655691
NM_213599.3(ANO5):c.1233A>G (p.Glu411=) rs2133722195
NM_213599.3(ANO5):c.1263G>A (p.Gln421=)
NM_213599.3(ANO5):c.1275G>A (p.Gln425=)
NM_213599.3(ANO5):c.1332+16G>A
NM_213599.3(ANO5):c.1332+17_1332+18del
NM_213599.3(ANO5):c.1333-4A>G
NM_213599.3(ANO5):c.1359C>T (p.Tyr453=) rs754889480
NM_213599.3(ANO5):c.1371A>G (p.Pro457=)
NM_213599.3(ANO5):c.138+11A>G
NM_213599.3(ANO5):c.138+11del
NM_213599.3(ANO5):c.138+12C>A
NM_213599.3(ANO5):c.138+14_138+23del
NM_213599.3(ANO5):c.138+17A>C
NM_213599.3(ANO5):c.138+20A>G
NM_213599.3(ANO5):c.138+9C>T
NM_213599.3(ANO5):c.1401A>G (p.Thr467=) rs757450282
NM_213599.3(ANO5):c.1408-19_1408-16del rs1483821642
NM_213599.3(ANO5):c.1453C>T (p.Leu485=)
NM_213599.3(ANO5):c.1470A>G (p.Thr490=)
NM_213599.3(ANO5):c.1497A>G (p.Ala499=) rs886042923
NM_213599.3(ANO5):c.1521C>T (p.Phe507=) rs2133738499
NM_213599.3(ANO5):c.1563G>A (p.Leu521=) rs190937193
NM_213599.3(ANO5):c.1630+10C>A
NM_213599.3(ANO5):c.1630+7_1630+10del
NM_213599.3(ANO5):c.1631-17T>A
NM_213599.3(ANO5):c.1631-19T>A
NM_213599.3(ANO5):c.1631-9A>T
NM_213599.3(ANO5):c.1653G>A (p.Glu551=) rs1277595417
NM_213599.3(ANO5):c.1671C>T (p.Thr557=)
NM_213599.3(ANO5):c.1728T>C (p.Ala576=) rs2133747873
NM_213599.3(ANO5):c.1746C>T (p.Phe582=) rs267602823
NM_213599.3(ANO5):c.1800+19G>A
NM_213599.3(ANO5):c.1800+19G>T rs747434413
NM_213599.3(ANO5):c.1800+20T>C rs1190643138
NM_213599.3(ANO5):c.1801-7T>C
NM_213599.3(ANO5):c.1801-8C>T
NM_213599.3(ANO5):c.181-18C>T rs1350082012
NM_213599.3(ANO5):c.181-5T>C rs765995011
NM_213599.3(ANO5):c.1827A>G (p.Glu609=) rs1564944168
NM_213599.3(ANO5):c.1836C>A (p.Thr612=) rs1289517485
NM_213599.3(ANO5):c.1857C>T (p.Thr619=)
NM_213599.3(ANO5):c.1893T>A (p.Ile631=)
NM_213599.3(ANO5):c.1898+13T>C
NM_213599.3(ANO5):c.1898+14_1898+21del
NM_213599.3(ANO5):c.1898+15C>T rs775242183
NM_213599.3(ANO5):c.1898+9G>C
NM_213599.3(ANO5):c.1899-14A>C
NM_213599.3(ANO5):c.1899-19C>T
NM_213599.3(ANO5):c.1899-5A>G
NM_213599.3(ANO5):c.1899-7C>T
NM_213599.3(ANO5):c.18C>T (p.Leu6=) rs1257688225
NM_213599.3(ANO5):c.1923C>G (p.Arg641=)
NM_213599.3(ANO5):c.1944T>C (p.Ser648=) rs1854562352
NM_213599.3(ANO5):c.1950G>A (p.Lys650=)
NM_213599.3(ANO5):c.1962A>G (p.Arg654=) rs1057521970
NM_213599.3(ANO5):c.1989T>C (p.Ser663=)
NM_213599.3(ANO5):c.1992T>C (p.Phe664=)
NM_213599.3(ANO5):c.2010C>T (p.Phe670=)
NM_213599.3(ANO5):c.2029+8T>C rs1590322804
NM_213599.3(ANO5):c.2030-10T>C rs2133788068
NM_213599.3(ANO5):c.2030-17_2030-14dup
NM_213599.3(ANO5):c.2030-18T>C
NM_213599.3(ANO5):c.2030-3_2030-2dup rs768691315
NM_213599.3(ANO5):c.2067T>C (p.Ser689=) rs2133788273
NM_213599.3(ANO5):c.213C>T (p.Ile71=)
NM_213599.3(ANO5):c.2148C>T (p.Tyr716=)
NM_213599.3(ANO5):c.2229A>G (p.Ala743=)
NM_213599.3(ANO5):c.2235+18G>A rs776959563
NM_213599.3(ANO5):c.2235+19G>A
NM_213599.3(ANO5):c.2236-10T>A
NM_213599.3(ANO5):c.2236-15T>G
NM_213599.3(ANO5):c.2236-21_2236-17del rs762536132
NM_213599.3(ANO5):c.2236-21_2236-18del
NM_213599.3(ANO5):c.2236-21_2236-19del
NM_213599.3(ANO5):c.2236-6C>T rs755410266
NM_213599.3(ANO5):c.2236-8T>A
NM_213599.3(ANO5):c.2283C>T (p.Tyr761=)
NM_213599.3(ANO5):c.2331G>C (p.Val777=)
NM_213599.3(ANO5):c.2355G>A (p.Leu785=)
NM_213599.3(ANO5):c.2376C>T (p.His792=) rs1590332050
NM_213599.3(ANO5):c.2403C>T (p.Phe801=)
NM_213599.3(ANO5):c.2414+5TTTG[2]
NM_213599.3(ANO5):c.2414+5TTTG[3]
NM_213599.3(ANO5):c.2414+5TTTG[5] rs745502810
NM_213599.3(ANO5):c.2414+7T>G
NM_213599.3(ANO5):c.2414+7del rs776633849
NM_213599.3(ANO5):c.2415-5T>G
NM_213599.3(ANO5):c.2415-7T>C rs1554935084
NM_213599.3(ANO5):c.2415-8C>A rs1161884254
NM_213599.3(ANO5):c.2418C>T (p.Tyr806=) rs2133799805
NM_213599.3(ANO5):c.2424T>C (p.Asp808=)
NM_213599.3(ANO5):c.2433T>C (p.Tyr811=)
NM_213599.3(ANO5):c.2448G>A (p.Glu816=) rs760336798
NM_213599.3(ANO5):c.2520+16C>T rs2133800416
NM_213599.3(ANO5):c.2520+16del
NM_213599.3(ANO5):c.2521-18C>T
NM_213599.3(ANO5):c.2529G>A (p.Val843=) rs777846432
NM_213599.3(ANO5):c.2538T>G (p.Val846=)
NM_213599.3(ANO5):c.2541A>G (p.Lys847=)
NM_213599.3(ANO5):c.2547G>A (p.Leu849=) rs1454782677
NM_213599.3(ANO5):c.2589G>A (p.Glu863=)
NM_213599.3(ANO5):c.2625T>A (p.Ile875=)
NM_213599.3(ANO5):c.2646C>T (p.Asn882=) rs34969327
NM_213599.3(ANO5):c.2688C>G (p.Ala896=) rs377549896
NM_213599.3(ANO5):c.2688C>T (p.Ala896=) rs377549896
NM_213599.3(ANO5):c.2691G>A (p.Lys897=) rs2133811453
NM_213599.3(ANO5):c.270A>G (p.Val90=)
NM_213599.3(ANO5):c.2722C>T (p.Leu908=) rs751394880
NM_213599.3(ANO5):c.2741A>G (p.Ter914=)
NM_213599.3(ANO5):c.285G>A (p.Glu95=) rs1852639495
NM_213599.3(ANO5):c.294+12A>G
NM_213599.3(ANO5):c.294+18G>T
NM_213599.3(ANO5):c.294+7G>T rs376201886
NM_213599.3(ANO5):c.294+9A>T rs369462468
NM_213599.3(ANO5):c.295-11T>G
NM_213599.3(ANO5):c.295-15T>A
NM_213599.3(ANO5):c.295-16T>A rs746448319
NM_213599.3(ANO5):c.295-6T>C
NM_213599.3(ANO5):c.295-7G>A rs753416246
NM_213599.3(ANO5):c.295-8T>C
NM_213599.3(ANO5):c.364-6del rs2133611269
NM_213599.3(ANO5):c.364-6dup rs2133611269
NM_213599.3(ANO5):c.375T>C (p.Asp125=)
NM_213599.3(ANO5):c.393C>G (p.Val131=)
NM_213599.3(ANO5):c.40+12C>T
NM_213599.3(ANO5):c.40+20C>T
NM_213599.3(ANO5):c.40+7C>G
NM_213599.3(ANO5):c.40+8C>T
NM_213599.3(ANO5):c.40+9G>C
NM_213599.3(ANO5):c.405C>G (p.Ala135=)
NM_213599.3(ANO5):c.41-15_41-12del rs746608278
NM_213599.3(ANO5):c.41-4T>A rs2133520438
NM_213599.3(ANO5):c.426C>A (p.Thr142=) rs2133611722
NM_213599.3(ANO5):c.462G>A (p.Lys154=) rs1590246084
NM_213599.3(ANO5):c.468T>C (p.Ser156=) rs2133611968
NM_213599.3(ANO5):c.516T>C (p.Pro172=)
NM_213599.3(ANO5):c.528A>G (p.Pro176=)
NM_213599.3(ANO5):c.543T>C (p.Tyr181=)
NM_213599.3(ANO5):c.546C>T (p.Pro182=)
NM_213599.3(ANO5):c.585G>T (p.Arg195=)
NM_213599.3(ANO5):c.597C>T (p.Phe199=) rs2133612787
NM_213599.3(ANO5):c.603C>T (p.Ile201=)
NM_213599.3(ANO5):c.615A>G (p.Ala205=) rs538420196
NM_213599.3(ANO5):c.633A>C (p.Ser211=) rs1239574532
NM_213599.3(ANO5):c.648+18T>C rs894945314
NM_213599.3(ANO5):c.648+22del rs1852887617
NM_213599.3(ANO5):c.649-11T>C rs2133647759
NM_213599.3(ANO5):c.649-14C>T rs763172935
NM_213599.3(ANO5):c.663C>T (p.Leu221=)
NM_213599.3(ANO5):c.721C>T (p.Leu241=)
NM_213599.3(ANO5):c.738C>T (p.Tyr246=)
NM_213599.3(ANO5):c.741A>G (p.Ser247=) rs765749098
NM_213599.3(ANO5):c.762+17T>C
NM_213599.3(ANO5):c.762+8_762+10del
NM_213599.3(ANO5):c.763-17C>A
NM_213599.3(ANO5):c.763-19T>C
NM_213599.3(ANO5):c.763-4G>T
NM_213599.3(ANO5):c.768A>G (p.Gln256=) rs1374650064
NM_213599.3(ANO5):c.816A>G (p.Thr272=)
NM_213599.3(ANO5):c.87+17T>C rs2133520951
NM_213599.3(ANO5):c.87+20A>G
NM_213599.3(ANO5):c.879-11C>A
NM_213599.3(ANO5):c.879-11_879-10del
NM_213599.3(ANO5):c.88-12del rs1239090613
NM_213599.3(ANO5):c.88-14C>T rs770721931
NM_213599.3(ANO5):c.88-5G>A rs1275678971
NM_213599.3(ANO5):c.88-8A>G rs1306192601
NM_213599.3(ANO5):c.966A>G (p.Leu322=) rs7481951
NM_213599.3(ANO5):c.984C>T (p.Gly328=)

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