ClinVar Miner

List of variants reported as uncertain significance for Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_001739.2(CA5A):c.575C>T (p.Thr192Met) rs145215237 0.00021
NM_001739.2(CA5A):c.433G>A (p.Val145Met) rs138476706 0.00018
NM_001739.2(CA5A):c.615T>A (p.His205Gln) rs139816901 0.00014
NM_001739.2(CA5A):c.555G>A (p.Lys185=) rs147623570 0.00011
NM_001739.2(CA5A):c.123G>T (p.Trp41Cys) rs374378501 0.00010
NM_001739.2(CA5A):c.283A>G (p.Ile95Val) rs565675541 0.00007
NM_001739.2(CA5A):c.629C>T (p.Ala210Val) rs377314096 0.00007
NM_001739.2(CA5A):c.763G>A (p.Ala255Thr) rs756854770 0.00006
NM_001739.2(CA5A):c.253G>T (p.Val85Phe) rs138938647 0.00005
NM_001739.2(CA5A):c.497A>G (p.Asn166Ser) rs369629290 0.00005
NM_001739.2(CA5A):c.623C>T (p.Ala208Val) rs151220382 0.00005
NM_001739.2(CA5A):c.626G>A (p.Arg209Gln) rs553928413 0.00005
NM_001739.2(CA5A):c.710C>T (p.Pro237Leu) rs192069274 0.00005
NM_001739.2(CA5A):c.164C>T (p.Pro55Leu) rs764182711 0.00004
NM_001739.2(CA5A):c.38C>T (p.Ser13Phe) rs200005306 0.00004
NM_001739.2(CA5A):c.446C>T (p.Ala149Val) rs113386477 0.00004
NM_001739.2(CA5A):c.544G>A (p.Val182Met) rs149854962 0.00004
NM_001739.2(CA5A):c.668C>A (p.Thr223Asn) rs144744608 0.00004
NM_001739.2(CA5A):c.187C>T (p.Arg63Trp) rs771206174 0.00003
NM_001739.2(CA5A):c.287G>C (p.Trp96Ser) rs766339583 0.00003
NM_001739.2(CA5A):c.322G>A (p.Asp108Asn) rs570806518 0.00003
NM_001739.2(CA5A):c.445G>A (p.Ala149Thr) rs553819990 0.00003
NM_001739.2(CA5A):c.523A>G (p.Asn175Asp) rs371017385 0.00003
NM_001739.2(CA5A):c.77G>A (p.Arg26His) rs368273900 0.00003
NM_001739.2(CA5A):c.787C>T (p.Arg263Cys) rs764205965 0.00003
NM_001739.2(CA5A):c.917A>G (p.Ter306Trp) rs1377636661 0.00003
NM_001739.2(CA5A):c.89C>G (p.Pro30Arg) rs533233634 0.00002
NM_001739.2(CA5A):c.110G>A (p.Arg37His) rs775785856 0.00001
NM_001739.2(CA5A):c.235C>G (p.Gln79Glu) rs773608071 0.00001
NM_001739.2(CA5A):c.271T>C (p.Ser91Pro) rs557776920 0.00001
NM_001739.2(CA5A):c.412G>A (p.Glu138Lys) rs747262976 0.00001
NM_001739.2(CA5A):c.427C>G (p.His143Asp) rs1407821429 0.00001
NM_001739.2(CA5A):c.473A>C (p.His158Pro) rs754607374 0.00001
NM_001739.2(CA5A):c.643T>A (p.Phe215Ile) rs747371774 0.00001
NM_001739.2(CA5A):c.646G>A (p.Asp216Asn) rs370816330 0.00001
NM_001739.2(CA5A):c.647A>C (p.Asp216Ala) rs1344761438 0.00001
NM_001739.2(CA5A):c.697T>C (p.Ser233Pro) rs587777316 0.00001
NM_001739.2(CA5A):c.782C>T (p.Ala261Val) rs1457571520 0.00001
NM_001739.2(CA5A):c.868C>T (p.Arg290Trp) rs760042468 0.00001
NC_000016.9:g.(?_87677844)_(87970056_?)dup
NC_000016.9:g.(?_87960334)_(87960571_?)del
NM_001739.2(CA5A):c.149C>A (p.Pro50Gln) rs1173601485
NM_001739.2(CA5A):c.185C>T (p.Thr62Ile) rs1272266017
NM_001739.2(CA5A):c.298T>A (p.Tyr100Asn) rs1295048155
NM_001739.2(CA5A):c.376C>G (p.Leu126Val) rs2143963929
NM_001739.2(CA5A):c.387T>G (p.Phe129Leu) rs749994565
NM_001739.2(CA5A):c.404C>T (p.Ala135Val) rs2143963804
NM_001739.2(CA5A):c.45G>A (p.Leu15=)
NM_001739.2(CA5A):c.508G>T (p.Ala170Ser) rs2055892914
NM_001739.2(CA5A):c.512T>C (p.Val171Ala) rs2143950598
NM_001739.2(CA5A):c.514G>A (p.Val172Met) rs142182110
NM_001739.2(CA5A):c.514G>T (p.Val172Leu) rs142182110
NM_001739.2(CA5A):c.556C>G (p.Leu186Val) rs375321548
NM_001739.2(CA5A):c.595A>T (p.Ile199Phe) rs769123644
NM_001739.2(CA5A):c.601C>A (p.Pro201Thr) rs2508483154
NM_001739.2(CA5A):c.636G>A (p.Met212Ile) rs1300402517
NM_001739.2(CA5A):c.664C>T (p.Pro222Ser) rs749940049
NM_001739.2(CA5A):c.676G>A (p.Asp226Asn) rs1280675833
NM_001739.2(CA5A):c.734G>A (p.Trp245Ter) rs1170552867
NM_001739.2(CA5A):c.744G>T (p.Gln248His) rs1240080247
NM_001739.2(CA5A):c.767_774+13del rs762768981
NM_001739.2(CA5A):c.774G>C (p.Gln258His) rs2055718095
NM_001739.2(CA5A):c.847_848delinsGA (p.Pro283Glu) rs2143888447

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