ClinVar Miner

List of variants in gene ADSL reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 23
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HGVS dbSNP
NM_000026.4(ADSL):c.1060A>G (p.Thr354Ala) rs75953451
NM_000026.4(ADSL):c.1112G>A (p.Arg371Gln) rs192303222
NM_000026.4(ADSL):c.11G>T (p.Gly4Val) rs766546584
NM_000026.4(ADSL):c.1207A>C (p.Ile403Leu) rs754714101
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.1368+3A>G rs761279806
NM_000026.4(ADSL):c.1439C>G (p.Ala480Gly) rs796052250
NM_000026.4(ADSL):c.16G>C (p.Asp6His) rs140064577
NM_000026.4(ADSL):c.247C>T (p.Arg83Cys) rs780425464
NM_000026.4(ADSL):c.270T>C (p.Ala90=) rs143275316
NM_000026.4(ADSL):c.307G>T (p.Ala103Ser) rs761359362
NM_000026.4(ADSL):c.357+7G>A rs199993991
NM_000026.4(ADSL):c.408C>T (p.Ala136=) rs368166273
NM_000026.4(ADSL):c.40C>T (p.Arg14Cys) rs766465184
NM_000026.4(ADSL):c.482+5G>A rs886042934
NM_000026.4(ADSL):c.482+8A>G rs886042606
NM_000026.4(ADSL):c.579G>C (p.Leu193=) rs751928831
NM_000026.4(ADSL):c.702-7T>C rs201509960
NM_000026.4(ADSL):c.735A>T (p.Arg245=) rs143977255
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.986G>A (p.Arg329His) rs768203123

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