ClinVar Miner

List of variants reported as uncertain significance for ALG9-congenital disorder of glycosylation by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 194
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HGVS dbSNP gnomAD frequency
NM_012463.4(ATP6V0A2):c.1970C>T (p.Ala657Val) rs147641581 0.00047
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu) rs149700024 0.00033
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) rs36111204 0.00032
NM_012463.4(ATP6V0A2):c.1106G>A (p.Arg369Gln) rs141310219 0.00030
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn) rs144499089 0.00026
NM_024740.2(ALG9):c.741G>T (p.Arg247Ser) rs200946042 0.00026
NM_024740.2(ALG9):c.1489A>G (p.Ile497Val) rs138584071 0.00025
NM_012463.4(ATP6V0A2):c.994G>A (p.Glu332Lys) rs144949442 0.00023
NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile) rs532258057 0.00019
NM_012463.4(ATP6V0A2):c.658A>G (p.Ile220Val) rs763991801 0.00014
NM_012463.4(ATP6V0A2):c.118-7_118-3del rs777322469 0.00013
NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr) rs754727464 0.00012
NM_012463.4(ATP6V0A2):c.1015C>T (p.Arg339Cys) rs200463200 0.00011
NM_012463.4(ATP6V0A2):c.920C>G (p.Ala307Gly) rs752306671 0.00010
NM_012463.4(ATP6V0A2):c.1457C>T (p.Ser486Leu) rs201271558 0.00009
NM_012463.4(ATP6V0A2):c.28A>G (p.Met10Val) rs758214692 0.00009
NM_024740.2(ALG9):c.129C>T (p.Thr43=) rs1311317470 0.00008
NM_012463.4(ATP6V0A2):c.1111C>T (p.Arg371Cys) rs778381327 0.00007
NM_012463.4(ATP6V0A2):c.1048G>A (p.Gly350Ser) rs768141782 0.00006
NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His) rs199698721 0.00006
NM_012463.4(ATP6V0A2):c.2327G>A (p.Arg776His) rs758922111 0.00006
NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val) rs762614200 0.00006
NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu) rs371908109 0.00004
NM_012463.4(ATP6V0A2):c.2033G>A (p.Arg678His) rs761913726 0.00004
NM_012463.4(ATP6V0A2):c.2165C>T (p.Ala722Val) rs766224435 0.00004
NM_012463.4(ATP6V0A2):c.2246A>G (p.Asn749Ser) rs941238473 0.00004
NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile) rs752689489 0.00004
NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg) rs142935490 0.00004
NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly) rs201247720 0.00004
NM_024740.2(ALG9):c.128C>T (p.Thr43Ile) rs1377024435 0.00004
NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp) rs781305219 0.00003
NM_012463.4(ATP6V0A2):c.1038G>A (p.Ser346=) rs147411055 0.00003
NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser) rs372416067 0.00003
NM_012463.4(ATP6V0A2):c.2554G>A (p.Asp852Asn) rs774594773 0.00003
NM_012463.4(ATP6V0A2):c.263C>T (p.Ala88Val) rs199633614 0.00003
NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu) rs747354658 0.00003
NM_012463.4(ATP6V0A2):c.652G>A (p.Glu218Lys) rs759593402 0.00003
NM_012463.4(ATP6V0A2):c.793G>A (p.Gly265Arg) rs774118423 0.00003
NM_012463.4(ATP6V0A2):c.868A>G (p.Lys290Glu) rs772170459 0.00003
NM_024740.2(ALG9):c.1660C>T (p.Arg554Trp) rs782084496 0.00003
NM_012463.4(ATP6V0A2):c.1129G>A (p.Glu377Lys) rs370299179 0.00002
NM_012463.4(ATP6V0A2):c.2028T>G (p.Asn676Lys) rs763022700 0.00002
NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr) rs144946016 0.00002
NM_012463.4(ATP6V0A2):c.2294A>G (p.Gln765Arg) rs754014350 0.00002
NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His) rs774276857 0.00002
NM_012463.4(ATP6V0A2):c.435T>G (p.Phe145Leu) rs772179448 0.00002
NM_012463.4(ATP6V0A2):c.877G>A (p.Glu293Lys) rs368924297 0.00002
NM_024740.2(ALG9):c.188A>G (p.Lys63Arg) rs781991188 0.00002
NM_024740.2(ALG9):c.388A>G (p.Ile130Val) rs782298472 0.00002
NM_012463.4(ATP6V0A2):c.1057A>G (p.Ile353Val) rs374873455 0.00001
NM_012463.4(ATP6V0A2):c.1099C>G (p.Pro367Ala) rs147833091 0.00001
NM_012463.4(ATP6V0A2):c.1120A>G (p.Lys374Glu) rs201857139 0.00001
NM_012463.4(ATP6V0A2):c.1126A>G (p.Thr376Ala) rs1381866878 0.00001
NM_012463.4(ATP6V0A2):c.1247G>A (p.Gly416Glu) rs770611939 0.00001
NM_012463.4(ATP6V0A2):c.1351C>T (p.Arg451Trp) rs907470146 0.00001
NM_012463.4(ATP6V0A2):c.1432C>G (p.Leu478Val) rs1193899105 0.00001
NM_012463.4(ATP6V0A2):c.1468A>G (p.Ser490Gly) rs761024266 0.00001
NM_012463.4(ATP6V0A2):c.1822A>G (p.Lys608Glu) rs942181771 0.00001
NM_012463.4(ATP6V0A2):c.2005C>G (p.Leu669Val) rs374410950 0.00001
NM_012463.4(ATP6V0A2):c.2044G>A (p.Gly682Arg) rs766998428 0.00001
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn) rs777130500 0.00001
NM_012463.4(ATP6V0A2):c.2335C>G (p.Leu779Val) rs1289485537 0.00001
NM_012463.4(ATP6V0A2):c.2354A>G (p.Tyr785Cys) rs1300082047 0.00001
NM_012463.4(ATP6V0A2):c.291G>A (p.Met97Ile) rs1247351393 0.00001
NM_012463.4(ATP6V0A2):c.745G>A (p.Val249Met) rs879082266 0.00001
NM_012463.4(ATP6V0A2):c.764C>T (p.Thr255Ile) rs369952560 0.00001
NM_012463.4(ATP6V0A2):c.794G>A (p.Gly265Glu) rs571403150 0.00001
NM_012463.4(ATP6V0A2):c.818T>G (p.Leu273Arg) rs946611542 0.00001
NM_012463.4(ATP6V0A2):c.887A>G (p.Tyr296Cys) rs753314616 0.00001
NM_012463.4(ATP6V0A2):c.997G>C (p.Ala333Pro) rs773660973 0.00001
NM_024740.2(ALG9):c.1166C>T (p.Ala389Val) rs1555122792 0.00001
NM_024740.2(ALG9):c.1384A>G (p.Ile462Val) rs782350313 0.00001
NM_024740.2(ALG9):c.326A>G (p.Tyr109Cys) rs782251524 0.00001
NC_000012.11:g.(?_124191253)_(124207015_?)dup
NM_012463.4(ATP6V0A2):c.1007A>G (p.Gln336Arg)
NM_012463.4(ATP6V0A2):c.1019G>A (p.Arg340Gln)
NM_012463.4(ATP6V0A2):c.1022C>A (p.Ala341Glu) rs1956564188
NM_012463.4(ATP6V0A2):c.1038G>T (p.Ser346=) rs147411055
NM_012463.4(ATP6V0A2):c.1070T>C (p.Met357Thr)
NM_012463.4(ATP6V0A2):c.1079T>C (p.Ile360Thr) rs753742915
NM_012463.4(ATP6V0A2):c.1081C>A (p.Pro361Thr)
NM_012463.4(ATP6V0A2):c.1094C>T (p.Thr365Ile) rs779001204
NM_012463.4(ATP6V0A2):c.1157A>G (p.Tyr386Cys)
NM_012463.4(ATP6V0A2):c.1223T>C (p.Phe408Ser)
NM_012463.4(ATP6V0A2):c.1231A>C (p.Met411Leu)
NM_012463.4(ATP6V0A2):c.1291A>G (p.Asn431Asp)
NM_012463.4(ATP6V0A2):c.1309C>A (p.Leu437Ile)
NM_012463.4(ATP6V0A2):c.1357A>G (p.Ile453Val) rs911881776
NM_012463.4(ATP6V0A2):c.1370T>C (p.Met457Thr)
NM_012463.4(ATP6V0A2):c.1399A>G (p.Ile467Val) rs753076012
NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser) rs532258057
NM_012463.4(ATP6V0A2):c.1481C>T (p.Pro494Leu)
NM_012463.4(ATP6V0A2):c.1484C>T (p.Pro495Leu)
NM_012463.4(ATP6V0A2):c.1496AGA[1] (p.Lys500del)
NM_012463.4(ATP6V0A2):c.1515_1516inv (p.Asp506Asn)
NM_012463.4(ATP6V0A2):c.1558A>G (p.Ser520Gly)
NM_012463.4(ATP6V0A2):c.1628G>A (p.Arg543His)
NM_012463.4(ATP6V0A2):c.1667T>C (p.Val556Ala)
NM_012463.4(ATP6V0A2):c.1723T>G (p.Leu575Val) rs2135913589
NM_012463.4(ATP6V0A2):c.1780A>G (p.Met594Val)
NM_012463.4(ATP6V0A2):c.17G>A (p.Arg6Gln) rs2135870876
NM_012463.4(ATP6V0A2):c.1843G>A (p.Glu615Lys) rs2135914600
NM_012463.4(ATP6V0A2):c.188G>A (p.Arg63Gln)
NM_012463.4(ATP6V0A2):c.1897T>C (p.Phe633Leu)
NM_012463.4(ATP6V0A2):c.1948A>G (p.Arg650Gly)
NM_012463.4(ATP6V0A2):c.197-16A>G
NM_012463.4(ATP6V0A2):c.1988T>A (p.Leu663His)
NM_012463.4(ATP6V0A2):c.1999A>G (p.Lys667Glu)
NM_012463.4(ATP6V0A2):c.19A>G (p.Ser7Gly)
NM_012463.4(ATP6V0A2):c.2015T>C (p.Leu672Ser)
NM_012463.4(ATP6V0A2):c.2055+4A>C rs2135917390
NM_012463.4(ATP6V0A2):c.2057G>A (p.Ser686Asn)
NM_012463.4(ATP6V0A2):c.205G>A (p.Val69Ile)
NM_012463.4(ATP6V0A2):c.2193A>G (p.Ile731Met)
NM_012463.4(ATP6V0A2):c.2206G>A (p.Val736Ile)
NM_012463.4(ATP6V0A2):c.2255C>T (p.Ser752Phe)
NM_012463.4(ATP6V0A2):c.2329G>A (p.Val777Met)
NM_012463.4(ATP6V0A2):c.2383G>A (p.Ala795Thr)
NM_012463.4(ATP6V0A2):c.2449G>A (p.Ala817Thr)
NM_012463.4(ATP6V0A2):c.2490C>T (p.Tyr830=)
NM_012463.4(ATP6V0A2):c.2491G>A (p.Val831Ile)
NM_012463.4(ATP6V0A2):c.2502C>T (p.Gly834=) rs1451115150
NM_012463.4(ATP6V0A2):c.2509T>C (p.Phe837Leu)
NM_012463.4(ATP6V0A2):c.2531T>G (p.Leu844Arg)
NM_012463.4(ATP6V0A2):c.34C>G (p.Leu12Val) rs1232267114
NM_012463.4(ATP6V0A2):c.370G>A (p.Glu124Lys)
NM_012463.4(ATP6V0A2):c.373C>A (p.Leu125Met)
NM_012463.4(ATP6V0A2):c.382T>C (p.Tyr128His)
NM_012463.4(ATP6V0A2):c.406A>C (p.Lys136Gln)
NM_012463.4(ATP6V0A2):c.409A>G (p.Thr137Ala) rs1319344210
NM_012463.4(ATP6V0A2):c.413T>C (p.Phe138Ser)
NM_012463.4(ATP6V0A2):c.422G>A (p.Arg141His) rs143509747
NM_012463.4(ATP6V0A2):c.426_427inv (p.Val143Ile)
NM_012463.4(ATP6V0A2):c.557A>G (p.Glu186Gly)
NM_012463.4(ATP6V0A2):c.564T>G (p.Phe188Leu)
NM_012463.4(ATP6V0A2):c.652G>C (p.Glu218Gln) rs759593402
NM_012463.4(ATP6V0A2):c.668A>G (p.Tyr223Cys)
NM_012463.4(ATP6V0A2):c.679A>G (p.Ile227Val)
NM_012463.4(ATP6V0A2):c.721A>C (p.Ile241Leu)
NM_012463.4(ATP6V0A2):c.728A>G (p.Asp243Gly)
NM_012463.4(ATP6V0A2):c.731+6A>G
NM_012463.4(ATP6V0A2):c.769G>A (p.Glu257Lys)
NM_012463.4(ATP6V0A2):c.805C>T (p.Arg269Cys)
NM_012463.4(ATP6V0A2):c.856C>G (p.Gln286Glu) rs759906846
NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile) rs371533517
NM_012463.4(ATP6V0A2):c.893G>A (p.Arg298His)
NM_012463.4(ATP6V0A2):c.962A>G (p.Asn321Ser)
NM_012463.4(ATP6V0A2):c.976G>T (p.Ala326Ser)
NM_024740.2(ALG9):c.1015C>T (p.His339Tyr)
NM_024740.2(ALG9):c.1060A>T (p.Met354Leu)
NM_024740.2(ALG9):c.1077A>G (p.Ile359Met)
NM_024740.2(ALG9):c.1174-19T>G
NM_024740.2(ALG9):c.1177A>C (p.Ser393Arg)
NM_024740.2(ALG9):c.1197A>G (p.Lys399=)
NM_024740.2(ALG9):c.11G>A (p.Arg4Gln)
NM_024740.2(ALG9):c.1212G>T (p.Val404=)
NM_024740.2(ALG9):c.1226G>T (p.Arg409Leu) rs929508101
NM_024740.2(ALG9):c.131+5G>A rs567032424
NM_024740.2(ALG9):c.131+5G>T rs567032424
NM_024740.2(ALG9):c.1317G>C (p.Leu439=)
NM_024740.2(ALG9):c.1324+6T>G
NM_024740.2(ALG9):c.1325-17A>G
NM_024740.2(ALG9):c.1352C>G (p.Pro451Arg)
NM_024740.2(ALG9):c.1364G>T (p.Arg455Leu)
NM_024740.2(ALG9):c.1382C>T (p.Thr461Ile)
NM_024740.2(ALG9):c.1399G>A (p.Glu467Lys) rs782023699
NM_024740.2(ALG9):c.1406G>A (p.Arg469Lys)
NM_024740.2(ALG9):c.1431A>G (p.Lys477=)
NM_024740.2(ALG9):c.1469A>T (p.Asp490Val)
NM_024740.2(ALG9):c.1550G>A (p.Arg517Gln)
NM_024740.2(ALG9):c.1598G>C (p.Arg533Thr)
NM_024740.2(ALG9):c.1604T>C (p.Ile535Thr)
NM_024740.2(ALG9):c.1645A>G (p.Met549Val)
NM_024740.2(ALG9):c.1682A>G (p.Asn561Ser)
NM_024740.2(ALG9):c.1753G>A (p.Ala585Thr)
NM_024740.2(ALG9):c.1760A>G (p.Tyr587Cys)
NM_024740.2(ALG9):c.1765C>G (p.Pro589Ala)
NM_024740.2(ALG9):c.1768T>C (p.Phe590Leu)
NM_024740.2(ALG9):c.1780C>T (p.Gln594Ter) rs1555064204
NM_024740.2(ALG9):c.1820G>A (p.Arg607Gln)
NM_024740.2(ALG9):c.222C>T (p.Leu74=)
NM_024740.2(ALG9):c.279C>T (p.Tyr93=)
NM_024740.2(ALG9):c.360T>C (p.His120=)
NM_024740.2(ALG9):c.482T>C (p.Val161Ala)
NM_024740.2(ALG9):c.596C>G (p.Thr199Ser)
NM_024740.2(ALG9):c.59C>A (p.Thr20Lys) rs1555158969
NM_024740.2(ALG9):c.691G>A (p.Ala231Thr)
NM_024740.2(ALG9):c.739A>G (p.Arg247Gly)
NM_024740.2(ALG9):c.793C>T (p.Pro265Ser)
NM_024740.2(ALG9):c.880G>A (p.Gly294Arg)
NM_024740.2(ALG9):c.888T>G (p.Asp296Glu)
NM_024740.2(ALG9):c.910T>C (p.Tyr304His)
NM_024740.2(ALG9):c.966C>T (p.Leu322=)
NM_024740.2(ALG9):c.98G>A (p.Ser33Asn) rs1964247669

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