ClinVar Miner

List of variants in gene NAA15 studied for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_057175.5(NAA15):c.1753+12del rs3217605 0.21617
NM_057175.5(NAA15):c.2591A>G (p.Asn864Ser) rs201822171 0.00030
NM_057175.5(NAA15):c.1517A>G (p.Lys506Arg) rs994717258 0.00001
NM_057175.5(NAA15):c.2345G>A (p.Arg782Gln) rs776135982 0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NM_057175.5(NAA15):c.382C>T (p.Arg128Ter) rs1274633498 0.00001
NM_057175.5(NAA15):c.771C>G (p.Asn257Lys) rs1189760005 0.00001
NM_057175.4(NAA15):c.228_232del (p.Asp76Glufs) rs1380822792
NM_057175.5(NAA15):c.1009_1012del (p.Glu337fs) rs1553996086
NM_057175.5(NAA15):c.1021del (p.Ile341fs)
NM_057175.5(NAA15):c.1051del (p.Thr351fs) rs2110941246
NM_057175.5(NAA15):c.1118T>A (p.Leu373Ter) rs2110948948
NM_057175.5(NAA15):c.1165C>T (p.Gln389Ter)
NM_057175.5(NAA15):c.1257+1G>A rs1747996495
NM_057175.5(NAA15):c.134A>G (p.His45Arg) rs2110895965
NM_057175.5(NAA15):c.139_139+1dup
NM_057175.5(NAA15):c.1418_1421dup (p.Ala475fs)
NM_057175.5(NAA15):c.143C>A (p.Thr48Asn) rs764328356
NM_057175.5(NAA15):c.1446dup (p.Gln483fs) rs1748100957
NM_057175.5(NAA15):c.1450T>C (p.Cys484Arg) rs2110956953
NM_057175.5(NAA15):c.1486A>G (p.Lys496Glu)
NM_057175.5(NAA15):c.1493T>G (p.Met498Arg) rs2110957042
NM_057175.5(NAA15):c.1540-8T>G rs1748137462
NM_057175.5(NAA15):c.1549G>C (p.Glu517Gln)
NM_057175.5(NAA15):c.1624_1627delinsAT (p.Leu542fs) rs2110959790
NM_057175.5(NAA15):c.163del (p.Thr55fs) rs1553994814
NM_057175.5(NAA15):c.1645C>T (p.Arg549Ter) rs1179904078
NM_057175.5(NAA15):c.1695T>A (p.Tyr565Ter) rs1553997065
NM_057175.5(NAA15):c.1720dup (p.Thr574fs) rs2110960030
NM_057175.5(NAA15):c.1754-2A>G rs1748397238
NM_057175.5(NAA15):c.1765del (p.Asp589fs)
NM_057175.5(NAA15):c.1772del (p.Glu591fs) rs2110977229
NM_057175.5(NAA15):c.1796_1798del (p.Gln599del)
NM_057175.5(NAA15):c.1815A>T (p.Lys605Asn) rs1748399304
NM_057175.5(NAA15):c.1933G>A (p.Glu645Lys)
NM_057175.5(NAA15):c.2056+8A>G
NM_057175.5(NAA15):c.2086A>T (p.Lys696Ter) rs1553998565
NM_057175.5(NAA15):c.219G>T (p.Leu73Phe)
NM_057175.5(NAA15):c.2218C>T (p.Arg740Cys)
NM_057175.5(NAA15):c.231dup (p.Lys78fs) rs757423402
NM_057175.5(NAA15):c.2320_2332del (p.Tyr774fs) rs2111009771
NM_057175.5(NAA15):c.2322C>G (p.Tyr774Ter) rs886041097
NM_057175.5(NAA15):c.2333C>T (p.Ser778Phe) rs747017034
NM_057175.5(NAA15):c.233A>G (p.Lys78Arg) rs1747219477
NM_057175.5(NAA15):c.2344C>T (p.Arg782Ter) rs1270628305
NM_057175.5(NAA15):c.238_239insG (p.His80fs)
NM_057175.5(NAA15):c.2441T>C (p.Leu814Pro) rs2111013293
NM_057175.5(NAA15):c.2537A>T (p.Asp846Val)
NM_057175.5(NAA15):c.266T>C (p.Leu89Pro) rs1560965164
NM_057175.5(NAA15):c.309C>G (p.Tyr103Ter)
NM_057175.5(NAA15):c.327G>A (p.Trp109Ter) rs2110911054
NM_057175.5(NAA15):c.334G>A (p.Asp112Asn) rs889543097
NM_057175.5(NAA15):c.395dup (p.Tyr133fs)
NM_057175.5(NAA15):c.403-1G>A rs2110915238
NM_057175.5(NAA15):c.430C>T (p.Arg144Ter) rs1560966086
NM_057175.5(NAA15):c.55-2863G>C rs2110888403
NM_057175.5(NAA15):c.55-2A>C
NM_057175.5(NAA15):c.655C>T (p.Gln219Ter)
NM_057175.5(NAA15):c.691+1G>A rs1579109565
NM_057175.5(NAA15):c.706C>A (p.Gln236Lys)
NM_057175.5(NAA15):c.743G>A (p.Arg248Lys)
NM_057175.5(NAA15):c.779del (p.Tyr260fs) rs2110930242
NM_057175.5(NAA15):c.814A>G (p.Asn272Asp)
NM_057175.5(NAA15):c.839_840del (p.Ile279_Tyr280insTer)
NM_057175.5(NAA15):c.896A>G (p.Asn299Ser)
NM_057175.5(NAA15):c.908-2A>C
NM_057175.5(NAA15):c.908-2A>G rs2110935003
NM_057175.5(NAA15):c.913A>T (p.Lys305Ter) rs1553996072
NM_057175.5(NAA15):c.962del (p.Gly321fs)
NM_057175.5(NAA15):c.997T>C (p.Tyr333His) rs1747780138

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