ClinVar Miner

List of variants in gene ADSL reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000026.4(ADSL):c.1101+158T>C rs2068470 0.02772
NM_000026.4(ADSL):c.1102-230C>T rs56408831 0.02137
NM_000026.4(ADSL):c.1010+45C>G rs11913275 0.01284
NM_000026.4(ADSL):c.1102-77T>G rs116718400 0.00984
NM_000026.4(ADSL):c.483-226G>A rs17001854 0.00807
NM_000026.4(ADSL):c.1191+9C>T rs371706528 0.00047
NM_000026.4(ADSL):c.270T>C (p.Ala90=) rs143275316 0.00039
NM_000026.4(ADSL):c.-37C>G rs372357778 0.00012
NM_000026.4(ADSL):c.1102-16G>A rs200428249 0.00010
NM_000026.4(ADSL):c.1192-5C>T rs563441974 0.00005
NM_000026.4(ADSL):c.*20G>A rs750512596 0.00004
NM_000026.4(ADSL):c.153+7G>A rs376477242 0.00004
NM_000026.4(ADSL):c.153+11C>G rs754451782 0.00003
NM_000026.4(ADSL):c.114A>G (p.Thr38=) rs377588571 0.00002
NM_000026.4(ADSL):c.1089C>T (p.Val363=) rs368373129 0.00001
NM_000026.4(ADSL):c.1191+16T>C rs779771191 0.00001
NM_000026.4(ADSL):c.1369-17T>C rs758511561 0.00001
NM_000026.4(ADSL):c.358-5C>T rs769856337 0.00001
NM_000026.4(ADSL):c.42C>T (p.Arg14=) rs768010749 0.00001
NM_000026.4(ADSL):c.75G>A (p.Glu25=) rs1057522536 0.00001
NM_000026.4(ADSL):c.792+8G>T rs777198113 0.00001
NM_000026.4(ADSL):c.793-5C>A rs377164829 0.00001
NM_000026.4(ADSL):c.-8G>A rs560389412
NM_000026.4(ADSL):c.1011-23_1011-20del rs767894204
NM_000026.4(ADSL):c.1026C>T (p.Ala342=) rs1280553241
NM_000026.4(ADSL):c.1191+11C>A rs1057523739
NM_000026.4(ADSL):c.1272A>T (p.Ile424=) rs1057522571
NM_000026.4(ADSL):c.1368+8del rs758319423
NM_000026.4(ADSL):c.1369-7C>G rs780296394
NM_000026.4(ADSL):c.357+112del rs373063501
NM_000026.4(ADSL):c.402+157TTC[2] rs369736989
NM_000026.4(ADSL):c.403-11C>T rs1057520899
NM_000026.4(ADSL):c.483-15T>C rs1057520995
NM_000026.4(ADSL):c.558G>A (p.Leu186=) rs1555907486
NM_000026.4(ADSL):c.863-11T>C rs375532126
NM_000026.4(ADSL):c.863-20T>G rs760407114
NM_000026.4(ADSL):c.9T>C (p.Ala3=) rs758676257

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