ClinVar Miner

List of variants reported as uncertain significance for ATP6AP2-related disorder by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_005765.3(ATP6AP2):c.463C>T (p.Arg155Cys) rs146371390 0.00018
NM_005765.3(ATP6AP2):c.217C>T (p.Arg73Trp) rs749401561 0.00013
NM_005765.3(ATP6AP2):c.19C>T (p.Leu7Phe) rs765852654 0.00012
NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile) rs142013283 0.00011
NM_005765.3(ATP6AP2):c.539A>G (p.Asp180Gly) rs748977074 0.00011
NM_005765.3(ATP6AP2):c.922A>C (p.Asn308His) rs756836341 0.00009
NM_005765.3(ATP6AP2):c.218G>A (p.Arg73Gln) rs138150013 0.00005
NM_005765.3(ATP6AP2):c.315T>G (p.Ser105Arg) rs745748841 0.00005
NM_005765.3(ATP6AP2):c.455G>A (p.Arg152His) rs184634552 0.00003
NM_005765.3(ATP6AP2):c.122G>A (p.Arg41Gln) rs147857235 0.00002
NM_005765.3(ATP6AP2):c.158C>T (p.Ser53Phe) rs759094089 0.00002
NM_005765.3(ATP6AP2):c.190G>A (p.Ala64Thr) rs910550834 0.00002
NM_005765.3(ATP6AP2):c.262C>G (p.Leu88Val) rs375148460 0.00002
NM_005765.3(ATP6AP2):c.469C>T (p.Arg157Cys) rs138458908 0.00002
NM_005765.3(ATP6AP2):c.106C>T (p.Pro36Ser) rs202105468 0.00001
NM_005765.3(ATP6AP2):c.160G>T (p.Val54Leu) rs767128351 0.00001
NM_005765.3(ATP6AP2):c.226G>A (p.Val76Ile) rs966044221 0.00001
NM_005765.3(ATP6AP2):c.454C>T (p.Arg152Cys) rs745734335 0.00001
NM_005765.3(ATP6AP2):c.496A>T (p.Ser166Cys) rs760027081 0.00001
NM_005765.3(ATP6AP2):c.530A>G (p.Asn177Ser) rs377762605 0.00001
NM_005765.3(ATP6AP2):c.589-3A>G rs370220088 0.00001
NM_005765.3(ATP6AP2):c.596G>A (p.Arg199His) rs751433380 0.00001
NM_005765.3(ATP6AP2):c.615G>C (p.Lys205Asn) rs1242256343 0.00001
NM_005765.3(ATP6AP2):c.673C>T (p.Arg225Cys) rs1158279990 0.00001
NM_005765.3(ATP6AP2):c.692A>T (p.Glu231Val) rs776952090 0.00001
NC_000023.10:g.(?_39911342)_(41782261_?)dup
NC_000023.10:g.(?_39911362)_(41782241_?)del
NC_000023.10:g.(?_40464793)_(40465007_?)dup
NC_000023.11:g.(?_40581046)_(40605775_?)dup
NM_005765.3(ATP6AP2):c.1015A>G (p.Ile339Val) rs1927055441
NM_005765.3(ATP6AP2):c.127C>T (p.Pro43Ser)
NM_005765.3(ATP6AP2):c.168+3A>G
NM_005765.3(ATP6AP2):c.169G>A (p.Asp57Asn)
NM_005765.3(ATP6AP2):c.176C>G (p.Ser59Cys)
NM_005765.3(ATP6AP2):c.209A>T (p.His70Leu) rs2146539439
NM_005765.3(ATP6AP2):c.232G>T (p.Val78Leu) rs796052283
NM_005765.3(ATP6AP2):c.259G>C (p.Ala87Pro) rs1926620037
NM_005765.3(ATP6AP2):c.275G>A (p.Ser92Asn) rs1450455949
NM_005765.3(ATP6AP2):c.289C>T (p.Pro97Ser) rs1926621605
NM_005765.3(ATP6AP2):c.315T>A (p.Ser105Arg)
NM_005765.3(ATP6AP2):c.323G>A (p.Ser108Asn)
NM_005765.3(ATP6AP2):c.328G>A (p.Ala110Thr)
NM_005765.3(ATP6AP2):c.33G>A (p.Val11=) rs1926309103
NM_005765.3(ATP6AP2):c.340C>T (p.His114Tyr)
NM_005765.3(ATP6AP2):c.351T>G (p.Phe117Leu)
NM_005765.3(ATP6AP2):c.35C>T (p.Ala12Val)
NM_005765.3(ATP6AP2):c.365C>T (p.Pro122Leu)
NM_005765.3(ATP6AP2):c.37+5G>A
NM_005765.3(ATP6AP2):c.375G>T (p.Leu125Phe)
NM_005765.3(ATP6AP2):c.408G>A (p.Met136Ile) rs1555977799
NM_005765.3(ATP6AP2):c.428T>C (p.Val143Ala) rs1926802970
NM_005765.3(ATP6AP2):c.448A>T (p.Thr150Ser) rs2146542684
NM_005765.3(ATP6AP2):c.47G>A (p.Gly16Glu) rs866274169
NM_005765.3(ATP6AP2):c.500C>T (p.Ser167Leu)
NM_005765.3(ATP6AP2):c.50A>G (p.Asn17Ser) rs1926552105
NM_005765.3(ATP6AP2):c.529A>G (p.Asn177Asp)
NM_005765.3(ATP6AP2):c.536T>C (p.Val179Ala) rs773037776
NM_005765.3(ATP6AP2):c.724G>A (p.Asp242Asn) rs2146543666
NM_005765.3(ATP6AP2):c.727G>A (p.Ala243Thr)
NM_005765.3(ATP6AP2):c.739-5_739-4del
NM_005765.3(ATP6AP2):c.752T>C (p.Met251Thr) rs2146544175
NM_005765.3(ATP6AP2):c.766G>T (p.Gly256Cys)
NM_005765.3(ATP6AP2):c.775G>A (p.Ala259Thr)
NM_005765.3(ATP6AP2):c.811A>T (p.Thr271Ser)
NM_005765.3(ATP6AP2):c.840C>G (p.Ile280Met) rs1555978066
NM_005765.3(ATP6AP2):c.857C>T (p.Ala286Val)
NM_005765.3(ATP6AP2):c.858+4A>G
NM_005765.3(ATP6AP2):c.858G>A (p.Ala286=) rs1555978069
NM_005765.3(ATP6AP2):c.878A>C (p.Tyr293Ser)
NM_005765.3(ATP6AP2):c.913G>A (p.Val305Met)
NM_005765.3(ATP6AP2):c.942G>A (p.Met314Ile) rs2146547241
NM_005765.3(ATP6AP2):c.946G>A (p.Ala316Thr)
NM_005765.3(ATP6AP2):c.953C>A (p.Ala318Asp) rs1555978614
NM_005765.3(ATP6AP2):c.961G>A (p.Val321Met) rs2146547252
NM_005765.3(ATP6AP2):c.979A>G (p.Asn327Asp)
NM_005765.3(ATP6AP2):c.98G>A (p.Gly33Glu)

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