ClinVar Miner

List of variants reported as pathogenic for Arginase deficiency

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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro) rs755359126 0.00004
NM_000045.4(ARG1):c.383A>G (p.Asp128Gly) rs140549609 0.00003
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter) rs104893940 0.00003
NM_000045.4(ARG1):c.365G>A (p.Trp122Ter) rs104893947 0.00002
NM_000045.4(ARG1):c.3G>A (p.Met1Ile) rs745624953 0.00002
NM_000045.4(ARG1):c.612C>A (p.Asp204Glu) rs775435820 0.00002
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln) rs377280518 0.00002
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg) rs753829097 0.00001
NM_000045.4(ARG1):c.372dup (p.Ala125fs) rs776939220 0.00001
NM_000045.4(ARG1):c.413G>T (p.Gly138Val) rs104893943 0.00001
NM_000045.4(ARG1):c.425G>A (p.Gly142Glu) rs767219084 0.00001
NM_000045.4(ARG1):c.466-1G>C rs1064794165 0.00001
NM_000045.4(ARG1):c.57+1G>A rs587776539 0.00001
NM_000045.4(ARG1):c.61C>T (p.Arg21Ter) rs104893944 0.00001
NM_000045.4(ARG1):c.703G>A (p.Gly235Arg) rs104893948 0.00001
NM_000045.4(ARG1):c.93del (p.Arg32fs) rs755975244 0.00001
NC_000006.11:g.(?_131900217)_(131902528_?)del
NC_000006.12:g.(?_131576653)_(131583918_?)del
NM_000045.4(ARG1):c.124G>T (p.Glu42Ter) rs748744950
NM_000045.4(ARG1):c.124_125insT (p.Glu42fs)
NM_000045.4(ARG1):c.129del (p.Glu44fs) rs1169538148
NM_000045.4(ARG1):c.130+1G>A rs113767658
NM_000045.4(ARG1):c.142A>T (p.Lys48Ter) rs1773783170
NM_000045.4(ARG1):c.157del (p.Leu53fs)
NM_000045.4(ARG1):c.159_163del (p.Pro54fs)
NM_000045.4(ARG1):c.189del (p.Gln65fs) rs1562356664
NM_000045.4(ARG1):c.232dup (p.Glu78fs)
NM_000045.4(ARG1):c.23T>A (p.Ile8Lys) rs149310631
NM_000045.4(ARG1):c.263_266del (p.Lys88fs) rs1773790103
NM_000045.4(ARG1):c.272del (p.Gly91fs) rs796051923
NM_000045.4(ARG1):c.272dup (p.Arg92fs) rs796051923
NM_000045.4(ARG1):c.2T>C (p.Met1Thr) rs1554249332
NM_000045.4(ARG1):c.305+1G>A rs112432420
NM_000045.4(ARG1):c.326_353del (p.Ser109fs)
NM_000045.4(ARG1):c.32T>C (p.Ile11Thr) rs28941474
NM_000045.4(ARG1):c.336dup (p.Arg113fs) rs1773906992
NM_000045.4(ARG1):c.341_344dup (p.Asp117fs)
NM_000045.4(ARG1):c.366G>A (p.Trp122Ter) rs2114539596
NM_000045.4(ARG1):c.371A>G (p.Asp124Gly)
NM_000045.4(ARG1):c.401C>T (p.Thr134Ile)
NM_000045.4(ARG1):c.404C>T (p.Thr135Ile) rs1451472748
NM_000045.4(ARG1):c.425del (p.Gly142fs) rs1585420294
NM_000045.4(ARG1):c.434T>A (p.Val145Glu) rs1773915383
NM_000045.4(ARG1):c.435_438dup (p.Phe147fs)
NM_000045.4(ARG1):c.459dup (p.Gly154fs)
NM_000045.4(ARG1):c.464dup (p.Ile156fs) rs1773916575
NM_000045.4(ARG1):c.466-2A>G rs1554251045
NM_000045.4(ARG1):c.491G>A (p.Trp164Ter)
NM_000045.4(ARG1):c.492G>A (p.Trp164Ter) rs146625637
NM_000045.4(ARG1):c.493dup (p.Val165fs)
NM_000045.4(ARG1):c.50del (p.Lys17fs) rs2114507395
NM_000045.4(ARG1):c.547_549del (p.Asp183del) rs2114545947
NM_000045.4(ARG1):c.560+2T>C rs2114546081
NM_000045.4(ARG1):c.57+1G>T
NM_000045.4(ARG1):c.577_578del (p.Leu193fs) rs766868484
NM_000045.4(ARG1):c.594_595dup (p.Ser199fs)
NM_000045.4(ARG1):c.603_604del (p.Glu202fs) rs2114547911
NM_000045.4(ARG1):c.603del (p.Glu202fs)
NM_000045.4(ARG1):c.640del (p.Glu214fs)
NM_000045.4(ARG1):c.646_649del (p.Leu216fs) rs756080885
NM_000045.4(ARG1):c.666-2A>C
NM_000045.4(ARG1):c.673del (p.Arg225fs)
NM_000045.4(ARG1):c.684del (p.His228_Leu229insTer) rs2114549176
NM_000045.4(ARG1):c.700G>C (p.Asp234His)
NM_000045.4(ARG1):c.703G>C (p.Gly235Arg) rs104893948
NM_000045.4(ARG1):c.707dup (p.Asp237fs)
NM_000045.4(ARG1):c.766G>T (p.Glu256Ter) rs2114549604
NM_000045.4(ARG1):c.78del (p.Gly27fs) rs2114519176
NM_000045.4(ARG1):c.802+1G>A
NM_000045.4(ARG1):c.807_811del (p.Leu270fs) rs1562361751
NM_000045.4(ARG1):c.80G>A (p.Gly27Asp) rs1326930389
NM_000045.4(ARG1):c.811_812del (p.Ser271fs) rs1585429783
NM_000045.4(ARG1):c.819del (p.Asp274fs) rs2114551021
NM_000045.4(ARG1):c.820_823dup (p.Ile275fs) rs1562361762
NM_000045.4(ARG1):c.839del (p.Pro280fs) rs2114551140
NM_000045.4(ARG1):c.844del (p.Leu282fs) rs1562361837
NM_000045.4(ARG1):c.869C>G (p.Thr290Ser) rs104893942
NM_000045.4(ARG1):c.877del (p.Thr292_Val293insTer)
NM_000045.4(ARG1):c.913G>A (p.Gly305Arg) rs866970619
NM_000045.4(ARG1):c.938del (p.Lys313fs) rs1554251356
NM_015979.4(MED23):c.4095+4355_4095+4358del

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