ClinVar Miner

List of variants in gene NAGS reported as pathogenic for amino acid metabolism disease

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_153006.3(NAGS):c.1292C>T (p.Thr431Ile) rs761558985 0.00004
NM_153006.3(NAGS):c.739C>T (p.Gln247Ter) rs748875458 0.00002
NM_153006.3(NAGS):c.1025del (p.Arg342fs) rs730880266 0.00001
NM_153006.3(NAGS):c.1272C>G (p.Tyr424Ter) rs1214956593 0.00001
NM_153006.3(NAGS):c.1037_1070del (p.His346fs)
NM_153006.3(NAGS):c.106_107del (p.Arg36fs) rs2143978561
NM_153006.3(NAGS):c.1096+2T>G rs2049097522
NM_153006.3(NAGS):c.1097-1G>C rs2143989613
NM_153006.3(NAGS):c.1097-2A>G rs2049106256
NM_153006.3(NAGS):c.1108del (p.Leu370fs)
NM_153006.3(NAGS):c.1114A>T (p.Lys372Ter) rs2049106859
NM_153006.3(NAGS):c.111_120del (p.Arg38fs) rs2143978628
NM_153006.3(NAGS):c.116_122dup (p.Arg41fs)
NM_153006.3(NAGS):c.1268+2T>C rs202041339
NM_153006.3(NAGS):c.1272C>A (p.Tyr424Ter)
NM_153006.3(NAGS):c.1289T>C (p.Leu430Pro) rs104894605
NM_153006.3(NAGS):c.1299G>C (p.Glu433Asp) rs104894607
NM_153006.3(NAGS):c.1302del (p.Val435fs)
NM_153006.3(NAGS):c.1307dup (p.Thr439fs) rs730880303
NM_153006.3(NAGS):c.1313del (p.Gly438fs) rs1597866458
NM_153006.3(NAGS):c.1313dup (p.Thr439fs) rs1597866458
NM_153006.3(NAGS):c.1323C>G (p.Tyr441Ter) rs886042831
NM_153006.3(NAGS):c.1328del (p.Asp443fs)
NM_153006.3(NAGS):c.134del (p.Pro45fs)
NM_153006.3(NAGS):c.138del (p.Arg47fs) rs2143978844
NM_153006.3(NAGS):c.1450T>C (p.Trp484Arg) rs104894606
NM_153006.3(NAGS):c.299C>A (p.Ser100Ter) rs764150659
NM_153006.3(NAGS):c.310del (p.Arg104fs)
NM_153006.3(NAGS):c.339C>A (p.Cys113Ter)
NM_153006.3(NAGS):c.343del (p.Ala115fs)
NM_153006.3(NAGS):c.34del (p.Ala12fs) rs2049059647
NM_153006.3(NAGS):c.368G>A (p.Trp123Ter) rs2143980093
NM_153006.3(NAGS):c.376C>T (p.Gln126Ter)
NM_153006.3(NAGS):c.390C>A (p.Cys130Ter) rs2143980228
NM_153006.3(NAGS):c.46del (p.Ala16fs) rs2143978288
NM_153006.3(NAGS):c.535dup (p.Ala179fs)
NM_153006.3(NAGS):c.562dup (p.Ser188fs)
NM_153006.3(NAGS):c.569G>A (p.Trp190Ter) rs2049079486
NM_153006.3(NAGS):c.570G>A (p.Trp190Ter) rs755257734
NM_153006.3(NAGS):c.622C>T (p.Arg208Ter) rs762205848
NM_153006.3(NAGS):c.654dup (p.Gly219fs)
NM_153006.3(NAGS):c.69_78del (p.Gly24fs) rs2049060332
NM_153006.3(NAGS):c.724G>T (p.Glu242Ter) rs2143984711
NM_153006.3(NAGS):c.777C>A (p.Cys259Ter) rs2049086224
NM_153006.3(NAGS):c.835G>A (p.Ala279Thr) rs121912591
NM_153006.3(NAGS):c.893del (p.Gly298fs) rs2143985704
NM_153006.3(NAGS):c.916-2A>T rs730880267
NM_153006.3(NAGS):c.92_119del (p.Leu31fs)
NM_153006.3(NAGS):c.971G>A (p.Trp324Ter) rs104894604
NM_153006.3(NAGS):c.998_1016del (p.Met333fs)

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