ClinVar Miner

List of variants reported as uncertain significance for adenylosuccinate lyase deficiency by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NC_000022.10:g.(?_40742514)_(40762546_?)dup
NM_000026.2(ADSL):c.1060A>G (p.Thr354Ala) rs75953451
NM_000026.2(ADSL):c.1112G>A (p.Arg371Gln) rs192303222
NM_000026.2(ADSL):c.1115G>A (p.Arg372His) rs150228971
NM_000026.2(ADSL):c.1121G>A (p.Arg374Gln) rs568567422
NM_000026.2(ADSL):c.1262A>G (p.Asn421Ser) rs145750778
NM_000026.2(ADSL):c.1279A>G (p.Ile427Val) rs758241731
NM_000026.2(ADSL):c.1342T>C (p.Ser448Pro) rs771121666
NM_000026.2(ADSL):c.1400C>G (p.Pro467Arg) rs1057521071
NM_000026.2(ADSL):c.247C>T (p.Arg83Cys) rs780425464
NM_000026.2(ADSL):c.563G>A (p.Arg188His) rs761937276
NM_000026.2(ADSL):c.805A>G (p.Ile269Val) rs759104126
NM_000026.2(ADSL):c.926G>A (p.Arg309His) rs749817666
NM_000026.3(ADSL):c.1111C>T (p.Arg371Trp) rs777359946
NM_000026.3(ADSL):c.1114C>A (p.Arg372Ser)
NM_000026.3(ADSL):c.1212A>C (p.Arg404Ser) rs781253590
NM_000026.3(ADSL):c.1355G>A (p.Arg452His) rs775671027
NM_000026.3(ADSL):c.1405T>A (p.Leu469Ile) rs768999974
NM_000026.3(ADSL):c.154-7delT rs1452778583
NM_000026.3(ADSL):c.155C>A (p.Thr52Lys)
NM_000026.3(ADSL):c.16G>C (p.Asp6His) rs140064577
NM_000026.3(ADSL):c.357+6C>T rs181628906
NM_000026.3(ADSL):c.36C>A (p.Ser12Arg)
NM_000026.3(ADSL):c.407C>T (p.Ala136Val)
NM_000026.3(ADSL):c.482+8A>G rs886042606
NM_000026.3(ADSL):c.541A>G (p.Met181Val)
NM_000026.3(ADSL):c.541A>T (p.Met181Leu) rs768542145
NM_000026.3(ADSL):c.581G>A (p.Arg194His) rs755359802
NM_000026.3(ADSL):c.586C>T (p.Arg196Trp)
NM_000026.3(ADSL):c.655G>A (p.Val219Ile) rs1555907605
NM_000026.3(ADSL):c.71C>T (p.Pro24Leu) rs1257907226
NM_000026.3(ADSL):c.769A>G (p.Ser257Gly) rs775115015
NM_000026.3(ADSL):c.887G>A (p.Arg296Gln) rs755059672
NM_000026.3(ADSL):c.898C>T (p.Arg300Cys) rs369617680
NM_000026.3(ADSL):c.916A>G (p.Ser306Gly) rs1006262492

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