ClinVar Miner

List of variants in gene ADSL reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 46
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HGVS dbSNP
NM_000026.4(ADSL):c.-22C>T rs746438478
NM_000026.4(ADSL):c.-35G>A rs750649096
NM_000026.4(ADSL):c.1016T>A (p.Ile339Asn) rs772974251
NM_000026.4(ADSL):c.101A>G (p.Tyr34Cys) rs780994144
NM_000026.4(ADSL):c.1060A>G (p.Thr354Ala) rs75953451
NM_000026.4(ADSL):c.1061C>T (p.Thr354Met) rs752238667
NM_000026.4(ADSL):c.1112G>A (p.Arg371Gln) rs192303222
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.113C>G (p.Thr38Arg) rs747976292
NM_000026.4(ADSL):c.1167G>A (p.Met389Ile) rs766782678
NM_000026.4(ADSL):c.1262A>G (p.Asn421Ser) rs145750778
NM_000026.4(ADSL):c.1279A>G (p.Ile427Val) rs758241731
NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr) rs200814886
NM_000026.4(ADSL):c.1337C>A (p.Pro446His) rs755964863
NM_000026.4(ADSL):c.1337_1339CTT[2] (p.Ser448del) rs796052252
NM_000026.4(ADSL):c.1340C>T (p.Ser447Phe) rs749427506
NM_000026.4(ADSL):c.1391A>T (p.Glu464Val) rs796052249
NM_000026.4(ADSL):c.1439C>G (p.Ala480Gly) rs796052250
NM_000026.4(ADSL):c.1447T>C (p.Cys483Arg) rs767124073
NM_000026.4(ADSL):c.197A>T (p.Lys66Ile) rs796052251
NM_000026.4(ADSL):c.20A>G (p.His7Arg) rs377248090
NM_000026.4(ADSL):c.240A>C (p.Glu80Asp) rs1064794245
NM_000026.4(ADSL):c.247C>T (p.Arg83Cys) rs780425464
NM_000026.4(ADSL):c.263T>C (p.Val88Ala) rs149165656
NM_000026.4(ADSL):c.271C>T (p.His91Tyr) rs755518176
NM_000026.4(ADSL):c.32A>T (p.Asp11Val) rs368501116
NM_000026.4(ADSL):c.377A>G (p.Asn126Ser) rs771267221
NM_000026.4(ADSL):c.406G>A (p.Ala136Thr) rs773964967
NM_000026.4(ADSL):c.40C>T (p.Arg14Cys) rs766465184
NM_000026.4(ADSL):c.482A>G (p.Gln161Arg) rs8192457
NM_000026.4(ADSL):c.563G>A (p.Arg188His) rs761937276
NM_000026.4(ADSL):c.56C>G (p.Ser19Cys) rs1555903913
NM_000026.4(ADSL):c.587G>A (p.Arg196Gln) rs753245184
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser) rs148411623
NM_000026.4(ADSL):c.805A>G (p.Ile269Val) rs759104126
NM_000026.4(ADSL):c.828G>C (p.Lys276Asn) rs796052245
NM_000026.4(ADSL):c.856C>G (p.Gln286Glu) rs376912453
NM_000026.4(ADSL):c.880T>C (p.Tyr294His) rs8192461
NM_000026.4(ADSL):c.886C>T (p.Arg296Trp) rs536254357
NM_000026.4(ADSL):c.895A>G (p.Met299Val) rs34396910
NM_000026.4(ADSL):c.898C>A (p.Arg300Ser) rs369617680
NM_000026.4(ADSL):c.925C>T (p.Arg309Cys) rs376357524
NM_000026.4(ADSL):c.926G>A (p.Arg309His) rs749817666
NM_000026.4(ADSL):c.986G>A (p.Arg329His) rs768203123

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