ClinVar Miner

List of variants in gene NAA15 reported as pathogenic for autosomal dominant disease

Included ClinVar conditions (1302):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
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_057175.4(NAA15):c.228_232del (p.Asp76Glufs) rs1380822792
NM_057175.5(NAA15):c.1009_1012del (p.Glu337fs) rs1553996086
NM_057175.5(NAA15):c.1051del (p.Thr351fs) rs2110941246
NM_057175.5(NAA15):c.1165C>T (p.Gln389Ter) rs2110949021
NM_057175.5(NAA15):c.139+1G>A
NM_057175.5(NAA15):c.1418_1421dup (p.Ala475fs) rs2530418752
NM_057175.5(NAA15):c.1446dup (p.Gln483fs) rs1748100957
NM_057175.5(NAA15):c.1450T>C (p.Cys484Arg) rs2110956953
NM_057175.5(NAA15):c.1539+1G>A rs2110957137
NM_057175.5(NAA15):c.1624_1627delinsAT (p.Leu542fs) rs2110959790
NM_057175.5(NAA15):c.163del (p.Thr55fs) rs1553994814
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) rs2530441464
NM_057175.5(NAA15):c.1881_1882insCC (p.Lys628fs)
NM_057175.5(NAA15):c.2086A>T (p.Lys696Ter) rs1553998565
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.2344C>T (p.Arg782Ter) rs1270628305
NM_057175.5(NAA15):c.238_239insG (p.His80fs) rs2530358034
NM_057175.5(NAA15):c.2441T>C (p.Leu814Pro) rs2111013293
NM_057175.5(NAA15):c.309C>G (p.Tyr103Ter) rs2530368656
NM_057175.5(NAA15):c.334G>A (p.Asp112Asn) rs889543097
NM_057175.5(NAA15):c.430C>T (p.Arg144Ter) rs1560966086
NM_057175.5(NAA15):c.63T>G (p.Tyr21Ter)
NM_057175.5(NAA15):c.908-2A>C rs2110935003
NM_057175.5(NAA15):c.908-2A>G rs2110935003
NM_057175.5(NAA15):c.913A>T (p.Lys305Ter) rs1553996072

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