ClinVar Miner

List of variants reported as benign for ALG9 congenital disorder of glycosylation by Invitae

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NC_000011.9:g.111742146del rs10708475 1.00000
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) rs7135542 0.71178
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=) rs1139789 0.66312
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) rs1399961 0.66054
NM_012463.4(ATP6V0A2):c.432+14C>T rs11837144 0.65907
NM_024740.2(ALG9):c.1602+10449A>G rs610437 0.63674
NM_024740.2(ALG9):c.865G>A (p.Val289Ile) rs10502151 0.28588
NM_024740.2(ALG9):c.406-7C>T rs45574638 0.02566
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456 0.02527
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02323
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_012463.4(ATP6V0A2):c.1039-14T>C rs115569365 0.01308
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu) rs17113312 0.01232
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) rs75279884 0.01166
NM_012463.4(ATP6V0A2):c.1606-12G>A rs112415338 0.01148
NM_024740.2(ALG9):c.132-17T>G rs782169051 0.00984
NM_024740.2(ALG9):c.132-13T>G rs72994380 0.00979
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=) rs73420336 0.00931
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410 0.00727
NM_012463.4(ATP6V0A2):c.1872G>A (p.Leu624=) rs73420342 0.00672
NM_024740.2(ALG9):c.1473-14T>C rs187507214 0.00657
NM_012463.4(ATP6V0A2):c.117+14G>A rs144930749 0.00652
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107 0.00545
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143 0.00258
NM_024740.2(ALG9):c.1794C>T (p.Tyr598=) rs77191760 0.00238
NM_024740.2(ALG9):c.790-11C>T rs188241987 0.00152
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791 0.00150
NM_012463.4(ATP6V0A2):c.1039-12T>C rs190537134 0.00128
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) rs150508296 0.00088
NM_012463.4(ATP6V0A2):c.1189+12G>T rs377235629 0.00085
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657 0.00078
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=) rs142454880 0.00076
NM_024740.2(ALG9):c.1332C>T (p.His444=) rs139516254 0.00036
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) rs143142641 0.00035
NM_012463.4(ATP6V0A2):c.1327-16G>A rs149092701 0.00033
NM_024740.2(ALG9):c.1659C>T (p.Pro553=) rs2276263 0.00031
NM_024740.2(ALG9):c.1750C>T (p.Arg584Trp) rs199995104 0.00025
NM_012463.4(ATP6V0A2):c.1128C>T (p.Thr376=) rs138172178 0.00021
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=) rs367950442 0.00021
NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=) rs140835376 0.00021
NM_024740.2(ALG9):c.62C>T (p.Ala21Val) rs1298391733 0.00012
NM_012463.4(ATP6V0A2):c.2340C>T (p.Arg780=) rs201694504 0.00011
NM_012463.4(ATP6V0A2):c.1698A>G (p.Gly566=) rs2271659 0.00008
NM_024740.2(ALG9):c.132-18T>G rs528601164 0.00008
NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=) rs181112338 0.00006
NM_012463.4(ATP6V0A2):c.2294-4G>A rs551697992 0.00001
NM_024740.2(ALG9):c.132-14T>G rs782251612 0.00001
NM_024740.2(ALG9):c.132-15T>G rs782361758 0.00001
NM_012463.4(ATP6V0A2):c.118-6del
NM_012463.4(ATP6V0A2):c.1190-7dup
NM_012463.4(ATP6V0A2):c.1724+20del rs375845531
NM_012463.4(ATP6V0A2):c.1724+20dup
NM_012463.4(ATP6V0A2):c.1725-10del
NM_012463.4(ATP6V0A2):c.2466-3del
NM_012463.4(ATP6V0A2):c.2466-3dup rs370511382
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.522-13del rs140638516
NM_024740.2(ALG9):c.1018+19G>A
NM_024740.2(ALG9):c.132-13del
NM_024740.2(ALG9):c.1604T>G (p.Ile535Ser) rs12575909
NM_024740.2(ALG9):c.1734-17del

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