List of variants in gene ATP6V0A2 reported as uncertain significance by GeneDx

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: 65

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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.1970C>T (p.Ala657Val)	rs147641581	0.00047
NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val)	rs139509075	0.00045
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_012463.4(ATP6V0A2):c.994G>A (p.Glu332Lys)	rs144949442	0.00023
NM_012463.4(ATP6V0A2):c.658A>G (p.Ile220Val)	rs763991801	0.00014
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.776G>A (p.Arg259Gln)	rs377561982	0.00008
NM_012463.4(ATP6V0A2):c.1111C>T (p.Arg371Cys)	rs778381327	0.00007
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.388C>T (p.His130Tyr)	rs199801221	0.00005
NM_012463.4(ATP6V0A2):c.1118A>G (p.Asn373Ser)	rs771839087	0.00004
NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu)	rs371908109	0.00004
NM_012463.4(ATP6V0A2):c.2246A>G (p.Asn749Ser)	rs941238473	0.00004
NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg)	rs142935490	0.00004
NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp)	rs781305219	0.00003
NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser)	rs372416067	0.00003
NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu)	rs747354658	0.00003
NM_012463.4(ATP6V0A2):c.588C>G (p.Cys196Trp)	rs940128206	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_012463.4(ATP6V0A2):c.1129G>A (p.Glu377Lys)	rs370299179	0.00002
NM_012463.4(ATP6V0A2):c.1526T>G (p.Val509Gly)	rs760212304	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.2558A>G (p.Asp853Gly)	rs767971908	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_012463.4(ATP6V0A2):c.1126A>G (p.Thr376Ala)	rs1381866878	0.00001
NM_012463.4(ATP6V0A2):c.2005C>G (p.Leu669Val)	rs374410950	0.00001
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn)	rs777130500	0.00001
NM_012463.4(ATP6V0A2):c.2186G>A (p.Gly729Glu)	rs751698448	0.00001
NM_012463.4(ATP6V0A2):c.2542A>G (p.Lys848Glu)	rs769901746	0.00001
NM_012463.4(ATP6V0A2):c.576G>T (p.Leu192Phe)	rs780455437	0.00001
NM_012463.4(ATP6V0A2):c.604G>A (p.Val202Met)	rs776619252	0.00001
NM_012463.4(ATP6V0A2):c.764C>T (p.Thr255Ile)	rs369952560	0.00001
NM_012463.4(ATP6V0A2):c.806G>A (p.Arg269His)	rs1295585374	0.00001
NM_012463.4(ATP6V0A2):c.818T>G (p.Leu273Arg)	rs946611542	0.00001
NM_012463.4(ATP6V0A2):c.968G>A (p.Cys323Tyr)	rs775855556	0.00001
NM_012463.4(ATP6V0A2):c.1070T>C (p.Met357Thr)
NM_012463.4(ATP6V0A2):c.128A>G (p.Asn43Ser)
NM_012463.4(ATP6V0A2):c.1355A>C (p.Tyr452Ser)	rs1956641918
NM_012463.4(ATP6V0A2):c.1357A>G (p.Ile453Val)	rs911881776
NM_012463.4(ATP6V0A2):c.1420A>G (p.Lys474Glu)	rs2135910171
NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser)	rs532258057
NM_012463.4(ATP6V0A2):c.1493A>G (p.His498Arg)
NM_012463.4(ATP6V0A2):c.1515-3_1515-2del	rs2135910474
NM_012463.4(ATP6V0A2):c.2030G>A (p.Gly677Glu)	rs1555299234
NM_012463.4(ATP6V0A2):c.2120T>C (p.Ile707Thr)
NM_012463.4(ATP6V0A2):c.2273C>T (p.Ala758Val)	rs886049062
NM_012463.4(ATP6V0A2):c.230T>G (p.Ile77Ser)
NM_012463.4(ATP6V0A2):c.2374C>T (p.Pro792Ser)	rs765645222
NM_012463.4(ATP6V0A2):c.2505C>T (p.Thr835=)	rs535703391
NM_012463.4(ATP6V0A2):c.422G>A (p.Arg141His)	rs143509747
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu)	rs143509747
NM_012463.4(ATP6V0A2):c.769G>A (p.Glu257Lys)
NM_012463.4(ATP6V0A2):c.779G>A (p.Arg260Lys)	rs199578524
NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile)	rs371533517

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