List of variants in gene ATP6V0A2 reported as likely benign for ALG9-congenital disorder of glycosylation

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 154

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HGVS	dbSNP	gnomAD frequency
NM_012463.4(ATP6V0A2):c.773A>G (p.Glu258Gly)	rs141467923	0.00087
NM_012463.4(ATP6V0A2):c.1069A>T (p.Met357Leu)	rs146967928	0.00078
NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val)	rs139509075	0.00045
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=)	rs75746974	0.00037
NM_012463.4(ATP6V0A2):c.522-9G>A	rs189175284	0.00036
NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=)	rs146156426	0.00034
NM_012463.4(ATP6V0A2):c.1936-7C>T	rs370135665	0.00028
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val)	rs143802431	0.00025
NM_012463.4(ATP6V0A2):c.1039-13G>T	rs375793162	0.00019
NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=)	rs182439983	0.00009
NM_012463.4(ATP6V0A2):c.1665C>T (p.Ser555=)	rs373155729	0.00009
NM_012463.4(ATP6V0A2):c.197-4A>G	rs541441279	0.00009
NM_012463.4(ATP6V0A2):c.2308C>T (p.Leu770=)	rs149439834	0.00008
NM_012463.4(ATP6V0A2):c.2367A>G (p.Leu789=)	rs142041624	0.00008
NM_012463.4(ATP6V0A2):c.388C>T (p.His130Tyr)	rs199801221	0.00005
NM_012463.4(ATP6V0A2):c.768C>T (p.Ala256=)	rs373419502	0.00005
NM_012463.4(ATP6V0A2):c.1118A>G (p.Asn373Ser)	rs771839087	0.00004
NM_012463.4(ATP6V0A2):c.1194C>T (p.Leu398=)	rs775345155	0.00004
NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=)	rs200933894	0.00004
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=)	rs563333869	0.00004
NM_012463.4(ATP6V0A2):c.1014G>A (p.Leu338=)	rs917452697	0.00003
NM_012463.4(ATP6V0A2):c.1485C>T (p.Pro495=)	rs759980365	0.00003
NM_012463.4(ATP6V0A2):c.1515-12T>G	rs201512900	0.00003
NM_012463.4(ATP6V0A2):c.1971A>G (p.Ala657=)	rs149123235	0.00003
NM_012463.4(ATP6V0A2):c.2166G>A (p.Ala722=)	rs753589480	0.00003
NM_012463.4(ATP6V0A2):c.234C>T (p.Pro78=)	rs375372808	0.00003
NM_012463.4(ATP6V0A2):c.2556C>T (p.Asp852=)	rs762290613	0.00003
NM_012463.4(ATP6V0A2):c.521+14C>T	rs747194853	0.00003
NM_012463.4(ATP6V0A2):c.621G>A (p.Leu207=)	rs374338507	0.00003
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=)	rs367873118	0.00003
NM_012463.4(ATP6V0A2):c.2043C>T (p.Phe681=)	rs202084330	0.00002
NM_012463.4(ATP6V0A2):c.2244C>A (p.Ser748=)	rs759226841	0.00002
NM_012463.4(ATP6V0A2):c.2250C>T (p.Thr750=)	rs759193879	0.00002
NM_012463.4(ATP6V0A2):c.2274G>A (p.Ala758=)	rs1308437998	0.00002
NM_012463.4(ATP6V0A2):c.2320C>T (p.Leu774=)	rs1337898685	0.00002
NM_012463.4(ATP6V0A2):c.2376G>A (p.Pro792=)	rs571286312	0.00002
NM_012463.4(ATP6V0A2):c.521+17G>A	rs192339944	0.00002
NM_012463.4(ATP6V0A2):c.1038+19C>T	rs748475567	0.00001
NM_012463.4(ATP6V0A2):c.1158T>C (p.Tyr386=)	rs751710968	0.00001
NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=)	rs985944979	0.00001
NM_012463.4(ATP6V0A2):c.1452C>T (p.Asn484=)	rs567406924	0.00001
NM_012463.4(ATP6V0A2):c.1605+13C>T	rs1031913267	0.00001
NM_012463.4(ATP6V0A2):c.1724+20T>A	rs778282853	0.00001
NM_012463.4(ATP6V0A2):c.2469A>G (p.Val823=)	rs775830030	0.00001
NM_012463.4(ATP6V0A2):c.795G>A (p.Gly265=)	rs754399086	0.00001
NM_012463.4(ATP6V0A2):c.819C>G (p.Leu273=)	rs760832828	0.00001
NM_012463.4(ATP6V0A2):c.853A>C (p.Arg285=)	rs776563027	0.00001
NM_012463.4(ATP6V0A2):c.1038+20_1038+22del
NM_012463.4(ATP6V0A2):c.1039-13G>A	rs375793162
NM_012463.4(ATP6V0A2):c.1039-15T>C
NM_012463.4(ATP6V0A2):c.1065A>G (p.Ser355=)	rs1593910063
NM_012463.4(ATP6V0A2):c.1098C>A (p.Pro366=)
NM_012463.4(ATP6V0A2):c.1128C>G (p.Thr376=)
NM_012463.4(ATP6V0A2):c.118-13A>G
NM_012463.4(ATP6V0A2):c.118-4T>C
NM_012463.4(ATP6V0A2):c.118-9T>G
NM_012463.4(ATP6V0A2):c.1215G>A (p.Pro405=)	rs1171365721
NM_012463.4(ATP6V0A2):c.1245C>T (p.Phe415=)
NM_012463.4(ATP6V0A2):c.1248A>C (p.Gly416=)
NM_012463.4(ATP6V0A2):c.1311A>G (p.Leu437=)
NM_012463.4(ATP6V0A2):c.1326+7A>C
NM_012463.4(ATP6V0A2):c.1326+7_1326+15dup	rs1593910803
NM_012463.4(ATP6V0A2):c.1353G>A (p.Arg451=)
NM_012463.4(ATP6V0A2):c.1362C>T (p.Leu454=)
NM_012463.4(ATP6V0A2):c.1391C>G (p.Thr464Ser)
NM_012463.4(ATP6V0A2):c.1407C>T (p.Asn469=)
NM_012463.4(ATP6V0A2):c.1410C>T (p.Asp470=)
NM_012463.4(ATP6V0A2):c.1437C>T (p.Phe479=)
NM_012463.4(ATP6V0A2):c.1455G>A (p.Val485=)
NM_012463.4(ATP6V0A2):c.1473C>T (p.Ser491=)
NM_012463.4(ATP6V0A2):c.1476C>T (p.Ser492=)
NM_012463.4(ATP6V0A2):c.1491G>A (p.Glu497=)
NM_012463.4(ATP6V0A2):c.1515-7_1515-5del
NM_012463.4(ATP6V0A2):c.1515-9T>C
NM_012463.4(ATP6V0A2):c.1515-9T>G
NM_012463.4(ATP6V0A2):c.1605+10C>T
NM_012463.4(ATP6V0A2):c.1605+16T>G	rs532950608
NM_012463.4(ATP6V0A2):c.1615T>C (p.Leu539=)
NM_012463.4(ATP6V0A2):c.1639C>T (p.Leu547=)
NM_012463.4(ATP6V0A2):c.1665C>G (p.Ser555=)
NM_012463.4(ATP6V0A2):c.1674A>G (p.Leu558=)
NM_012463.4(ATP6V0A2):c.1677A>C (p.Gly559=)
NM_012463.4(ATP6V0A2):c.1692T>G (p.Thr564=)	rs2135913544
NM_012463.4(ATP6V0A2):c.1724+11A>T
NM_012463.4(ATP6V0A2):c.1941T>C (p.Tyr647=)
NM_012463.4(ATP6V0A2):c.1953G>A (p.Val651=)
NM_012463.4(ATP6V0A2):c.196+8T>A
NM_012463.4(ATP6V0A2):c.197-14T>A
NM_012463.4(ATP6V0A2):c.2034T>C (p.Arg678=)
NM_012463.4(ATP6V0A2):c.2055+18_2055+24dup
NM_012463.4(ATP6V0A2):c.2055+8C>T
NM_012463.4(ATP6V0A2):c.2055+9G>A
NM_012463.4(ATP6V0A2):c.2056-10T>C
NM_012463.4(ATP6V0A2):c.2056-14C>G	rs375232199
NM_012463.4(ATP6V0A2):c.2056-14C>T
NM_012463.4(ATP6V0A2):c.2056-18_2056-17del
NM_012463.4(ATP6V0A2):c.2056-20T>C
NM_012463.4(ATP6V0A2):c.2067A>G (p.Thr689=)
NM_012463.4(ATP6V0A2):c.2097T>A (p.Val699=)
NM_012463.4(ATP6V0A2):c.2151A>T (p.Gly717=)
NM_012463.4(ATP6V0A2):c.2223G>A (p.Glu741=)
NM_012463.4(ATP6V0A2):c.2230C>T (p.Leu744=)
NM_012463.4(ATP6V0A2):c.2256C>T (p.Ser752=)
NM_012463.4(ATP6V0A2):c.2289C>T (p.His763=)
NM_012463.4(ATP6V0A2):c.2294-12A>G
NM_012463.4(ATP6V0A2):c.2328C>T (p.Arg776=)
NM_012463.4(ATP6V0A2):c.234C>G (p.Pro78=)
NM_012463.4(ATP6V0A2):c.2370G>C (p.Leu790=)
NM_012463.4(ATP6V0A2):c.2388C>G (p.Leu796=)
NM_012463.4(ATP6V0A2):c.2448C>T (p.His816=)
NM_012463.4(ATP6V0A2):c.2465+20T>C
NM_012463.4(ATP6V0A2):c.2466-10T>G
NM_012463.4(ATP6V0A2):c.2466-16C>G
NM_012463.4(ATP6V0A2):c.2466-16C>T
NM_012463.4(ATP6V0A2):c.2466-17_2466-16insA
NM_012463.4(ATP6V0A2):c.2472A>G (p.Glu824=)
NM_012463.4(ATP6V0A2):c.2541A>G (p.Ser847=)
NM_012463.4(ATP6V0A2):c.2553C>T (p.Asn851=)
NM_012463.4(ATP6V0A2):c.2559C>T (p.Asp853=)	rs1032324166
NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=)	rs139785866
NM_012463.4(ATP6V0A2):c.264G>C (p.Ala88=)	rs139785866
NM_012463.4(ATP6V0A2):c.294+16C>A
NM_012463.4(ATP6V0A2):c.294+16C>T
NM_012463.4(ATP6V0A2):c.294+17G>A
NM_012463.4(ATP6V0A2):c.294+18A>G
NM_012463.4(ATP6V0A2):c.333C>A (p.Val111=)
NM_012463.4(ATP6V0A2):c.333C>T (p.Val111=)
NM_012463.4(ATP6V0A2):c.336T>A (p.Thr112=)
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu)	rs143509747
NM_012463.4(ATP6V0A2):c.433-5T>C
NM_012463.4(ATP6V0A2):c.459T>G (p.Pro153=)
NM_012463.4(ATP6V0A2):c.516A>G (p.Lys172=)
NM_012463.4(ATP6V0A2):c.519G>C (p.Leu173=)
NM_012463.4(ATP6V0A2):c.528G>A (p.Val176=)
NM_012463.4(ATP6V0A2):c.645A>G (p.Glu215=)
NM_012463.4(ATP6V0A2):c.648+13C>T
NM_012463.4(ATP6V0A2):c.649-15A>G
NM_012463.4(ATP6V0A2):c.649-20T>C
NM_012463.4(ATP6V0A2):c.705C>T (p.Gly235=)	rs767516975
NM_012463.4(ATP6V0A2):c.731+12A>G
NM_012463.4(ATP6V0A2):c.731+16A>G
NM_012463.4(ATP6V0A2):c.744C>T (p.His248=)
NM_012463.4(ATP6V0A2):c.768C>A (p.Ala256=)
NM_012463.4(ATP6V0A2):c.826-14T>G	rs2135901661
NM_012463.4(ATP6V0A2):c.826-15G>A
NM_012463.4(ATP6V0A2):c.826-18C>G
NM_012463.4(ATP6V0A2):c.826-20C>T
NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=)	rs139680786
NM_012463.4(ATP6V0A2):c.849T>C (p.Tyr283=)
NM_012463.4(ATP6V0A2):c.864A>G (p.Leu288=)
NM_012463.4(ATP6V0A2):c.876C>T (p.Ala292=)
NM_012463.4(ATP6V0A2):c.912A>G (p.Lys304=)	rs2135901865
NM_012463.4(ATP6V0A2):c.939C>T (p.Asn313=)
NM_012463.4(ATP6V0A2):c.999G>A (p.Ala333=)

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