ClinVar Miner

List of variants studied for adenylosuccinate lyase deficiency by Invitae

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 79
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HGVS dbSNP
NC_000022.10:g.(?_40742514)_(40762546_?)dup
NM_000026.4(ADSL):c.1011-3T>C
NM_000026.4(ADSL):c.1027G>A (p.Glu343Lys)
NM_000026.4(ADSL):c.1060A>G (p.Thr354Ala) rs75953451
NM_000026.4(ADSL):c.1111C>T (p.Arg371Trp) rs777359946
NM_000026.4(ADSL):c.1112G>A (p.Arg371Gln) rs192303222
NM_000026.4(ADSL):c.1114C>A (p.Arg372Ser)
NM_000026.4(ADSL):c.1115G>A (p.Arg372His) rs150228971
NM_000026.4(ADSL):c.1120C>T (p.Arg374Trp) rs376533026
NM_000026.4(ADSL):c.1121G>A (p.Arg374Gln) rs568567422
NM_000026.4(ADSL):c.1212A>C (p.Arg404Ser) rs781253590
NM_000026.4(ADSL):c.1231G>A (p.Ala411Thr)
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415
NM_000026.4(ADSL):c.1262A>G (p.Asn421Ser) rs145750778
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) rs119450941
NM_000026.4(ADSL):c.1279A>G (p.Ile427Val) rs758241731
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro) rs771121666
NM_000026.4(ADSL):c.1343C>G (p.Ser448Cys)
NM_000026.4(ADSL):c.1350T>C (p.Thr450=) rs200300396
NM_000026.4(ADSL):c.1355G>A (p.Arg452His) rs775671027
NM_000026.4(ADSL):c.1400C>G (p.Pro467Arg) rs1057521071
NM_000026.4(ADSL):c.1405T>A (p.Leu469Ile) rs768999974
NM_000026.4(ADSL):c.1413A>G (p.Pro471=)
NM_000026.4(ADSL):c.154-7del rs1452778583
NM_000026.4(ADSL):c.155C>A (p.Thr52Lys) rs1380095056
NM_000026.4(ADSL):c.16G>C (p.Asp6His) rs140064577
NM_000026.4(ADSL):c.183A>C (p.Gln61His)
NM_000026.4(ADSL):c.205C>G (p.Leu69Val)
NM_000026.4(ADSL):c.216C>T (p.Ile72=) rs145786986
NM_000026.4(ADSL):c.247C>T (p.Arg83Cys) rs780425464
NM_000026.4(ADSL):c.253C>T (p.Arg85Ter) rs1036185928
NM_000026.4(ADSL):c.270T>C (p.Ala90=) rs143275316
NM_000026.4(ADSL):c.340T>C (p.Tyr114His) rs374259530
NM_000026.4(ADSL):c.357+6C>T rs181628906
NM_000026.4(ADSL):c.357+7G>A rs199993991
NM_000026.4(ADSL):c.358-4G>A rs113199851
NM_000026.4(ADSL):c.36C>A (p.Ser12Arg)
NM_000026.4(ADSL):c.402+1G>T
NM_000026.4(ADSL):c.403-4G>A rs373652667
NM_000026.4(ADSL):c.407C>T (p.Ala136Val) rs1569091418
NM_000026.4(ADSL):c.41G>T (p.Arg14Leu)
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991
NM_000026.4(ADSL):c.451A>G (p.Ser151Gly)
NM_000026.4(ADSL):c.482+8A>G rs886042606
NM_000026.4(ADSL):c.541A>G (p.Met181Val)
NM_000026.4(ADSL):c.541A>T (p.Met181Leu) rs768542145
NM_000026.4(ADSL):c.550C>T (p.Gln184Ter) rs1569096551
NM_000026.4(ADSL):c.563G>A (p.Arg188His) rs761937276
NM_000026.4(ADSL):c.569G>A (p.Arg190Gln) rs28941471
NM_000026.4(ADSL):c.581G>A (p.Arg194His) rs755359802
NM_000026.4(ADSL):c.586C>T (p.Arg196Trp)
NM_000026.4(ADSL):c.611C>G (p.Thr204Ser)
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser) rs148411623
NM_000026.4(ADSL):c.623T>A (p.Phe208Tyr)
NM_000026.4(ADSL):c.649C>G (p.His217Asp) rs199761158
NM_000026.4(ADSL):c.649C>T (p.His217Tyr)
NM_000026.4(ADSL):c.655G>A (p.Val219Ile) rs1555907605
NM_000026.4(ADSL):c.702-7T>C rs201509960
NM_000026.4(ADSL):c.71C>T (p.Pro24Leu) rs1257907226
NM_000026.4(ADSL):c.72G>A (p.Pro24=) rs1279175740
NM_000026.4(ADSL):c.734G>A (p.Arg245Gln) rs374047157
NM_000026.4(ADSL):c.735A>T (p.Arg245=) rs143977255
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu) rs119450944
NM_000026.4(ADSL):c.769A>G (p.Ser257Gly) rs775115015
NM_000026.4(ADSL):c.779C>T (p.Ala260Val)
NM_000026.4(ADSL):c.801C>T (p.Thr267=) rs369069575
NM_000026.4(ADSL):c.805A>G (p.Ile269Val) rs759104126
NM_000026.4(ADSL):c.808C>T (p.Arg270Cys) rs181252862
NM_000026.4(ADSL):c.842C>G (p.Pro281Arg)
NM_000026.4(ADSL):c.843C>T (p.Pro281=) rs1555908183
NM_000026.4(ADSL):c.870T>C (p.Ser290=) rs146890981
NM_000026.4(ADSL):c.880T>C (p.Tyr294His) rs8192461
NM_000026.4(ADSL):c.887G>A (p.Arg296Gln) rs755059672
NM_000026.4(ADSL):c.895A>G (p.Met299Val) rs34396910
NM_000026.4(ADSL):c.896T>C (p.Met299Thr)
NM_000026.4(ADSL):c.898C>T (p.Arg300Cys) rs369617680
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys) rs373458753
NM_000026.4(ADSL):c.916A>G (p.Ser306Gly) rs1006262492
NM_000026.4(ADSL):c.926G>A (p.Arg309His) rs749817666

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