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: 52
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HGVS dbSNP gnomAD frequency
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser) rs148411623 0.00155
NM_000026.4(ADSL):c.895A>G (p.Met299Val) rs34396910 0.00090
NM_000026.4(ADSL):c.1115G>A (p.Arg372His) rs150228971 0.00019
NM_000026.4(ADSL):c.247C>T (p.Arg83Cys) rs780425464 0.00015
NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr) rs200814886 0.00010
NM_000026.4(ADSL):c.1016T>A (p.Ile339Asn) rs772974251 0.00006
NM_000026.4(ADSL):c.32A>T (p.Asp11Val) rs368501116 0.00006
NM_000026.4(ADSL):c.856C>G (p.Gln286Glu) rs376912453 0.00006
NM_000026.4(ADSL):c.925C>T (p.Arg309Cys) rs376357524 0.00006
NM_000026.4(ADSL):c.1060A>G (p.Thr354Ala) rs75953451 0.00005
NM_000026.4(ADSL):c.-35G>A rs750649096 0.00004
NM_000026.4(ADSL):c.1112G>A (p.Arg371Gln) rs192303222 0.00004
NM_000026.4(ADSL):c.1121G>A (p.Arg374Gln) rs568567422 0.00004
NM_000026.4(ADSL):c.1262A>G (p.Asn421Ser) rs145750778 0.00004
NM_000026.4(ADSL):c.1279A>G (p.Ile427Val) rs758241731 0.00004
NM_000026.4(ADSL):c.254G>A (p.Arg85Gln) rs540648461 0.00003
NM_000026.4(ADSL):c.40C>T (p.Arg14Cys) rs766465184 0.00003
NM_000026.4(ADSL):c.1061C>T (p.Thr354Met) rs752238667 0.00002
NM_000026.4(ADSL):c.1447T>C (p.Cys483Arg) rs767124073 0.00002
NM_000026.4(ADSL):c.20A>G (p.His7Arg) rs377248090 0.00002
NM_000026.4(ADSL):c.406G>A (p.Ala136Thr) rs773964967 0.00002
NM_000026.4(ADSL):c.887G>A (p.Arg296Gln) rs755059672 0.00002
NM_000026.4(ADSL):c.898C>A (p.Arg300Ser) rs369617680 0.00002
NM_000026.4(ADSL):c.101A>G (p.Tyr34Cys) rs780994144 0.00001
NM_000026.4(ADSL):c.1105A>C (p.Ile369Leu) rs752104617 0.00001
NM_000026.4(ADSL):c.1120C>T (p.Arg374Trp) rs376533026 0.00001
NM_000026.4(ADSL):c.1167G>A (p.Met389Ile) rs766782678 0.00001
NM_000026.4(ADSL):c.1337C>A (p.Pro446His) rs755964863 0.00001
NM_000026.4(ADSL):c.1340C>T (p.Ser447Phe) rs749427506 0.00001
NM_000026.4(ADSL):c.1439C>G (p.Ala480Gly) rs796052250 0.00001
NM_000026.4(ADSL):c.263T>C (p.Val88Ala) rs149165656 0.00001
NM_000026.4(ADSL):c.377A>G (p.Asn126Ser) rs771267221 0.00001
NM_000026.4(ADSL):c.482A>G (p.Gln161Arg) rs8192457 0.00001
NM_000026.4(ADSL):c.587G>A (p.Arg196Gln) rs753245184 0.00001
NM_000026.4(ADSL):c.805A>G (p.Ile269Val) rs759104126 0.00001
NM_000026.4(ADSL):c.828G>C (p.Lys276Asn) rs796052245 0.00001
NM_000026.4(ADSL):c.842C>G (p.Pro281Arg) rs371529148 0.00001
NM_000026.4(ADSL):c.863G>C (p.Gly288Ala) rs776328750 0.00001
NM_000026.4(ADSL):c.926G>A (p.Arg309His) rs749817666 0.00001
NM_000026.4(ADSL):c.986G>A (p.Arg329His) rs768203123 0.00001
NM_000026.4(ADSL):c.-22C>T rs746438478
NM_000026.4(ADSL):c.1111C>T (p.Arg371Trp) rs777359946
NM_000026.4(ADSL):c.113C>G (p.Thr38Arg) rs747976292
NM_000026.4(ADSL):c.1391A>T (p.Glu464Val) rs796052249
NM_000026.4(ADSL):c.161G>A (p.Gly54Asp) rs765813625
NM_000026.4(ADSL):c.183A>C (p.Gln61His) rs1601551862
NM_000026.4(ADSL):c.197A>T (p.Lys66Ile) rs796052251
NM_000026.4(ADSL):c.217G>A (p.Asp73Asn) rs745787396
NM_000026.4(ADSL):c.240A>C (p.Glu80Asp) rs1064794245
NM_000026.4(ADSL):c.271C>T (p.His91Tyr) rs755518176
NM_000026.4(ADSL):c.562C>T (p.Arg188Cys) rs371892194
NM_000026.4(ADSL):c.56C>G (p.Ser19Cys) rs1555903913

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