ClinVar Miner

List of variants in gene ACD reported as uncertain significance for aplastic anemia

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP
NG_042874.1(ACD)::g.5474del rs753666055
NG_042874.1:g.5453G>A
NG_042874.1:g.5456C>T
NM_001082486.1(ACD):c.14G>A (p.Cys5Tyr) rs1555542868
NM_001082486.1(ACD):c.179T>G (p.Leu60Arg) rs753367228
NM_001082486.2(ACD):c.-188_-187inv (p.Trp24Ser)
NM_001082486.2(ACD):c.-24C>T
NM_001082486.2(ACD):c.-9G>T
NM_001082486.2(ACD):c.1025A>G (p.Gln342Arg) rs1567640107
NM_001082486.2(ACD):c.1063C>T (p.Pro355Ser)
NM_001082486.2(ACD):c.1077G>C (p.Gln359His)
NM_001082486.2(ACD):c.109G>A (p.Asp37Asn) rs142662151
NM_001082486.2(ACD):c.1148G>A (p.Arg383Gln)
NM_001082486.2(ACD):c.1178G>A (p.Arg393Lys) rs531580930
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr) rs201441120
NM_001082486.2(ACD):c.1297A>C (p.Arg433=)
NM_001082486.2(ACD):c.1306C>T (p.Pro436Ser) rs201926842
NM_001082486.2(ACD):c.22G>A (p.Val8Ile) rs149365469
NM_001082486.2(ACD):c.343G>C (p.Glu115Gln)
NM_001082486.2(ACD):c.350A>G (p.Tyr117Cys) rs775602659
NM_001082486.2(ACD):c.399_400insAAG (p.Arg134_Val135insLys)
NM_001082486.2(ACD):c.482C>T (p.Ser161Leu) rs149051014
NM_001082486.2(ACD):c.488A>G (p.Asn163Ser)
NM_001082486.2(ACD):c.4G>C (p.Ala2Pro) rs1435126124
NM_001082486.2(ACD):c.527G>T (p.Arg176Leu)
NM_001082486.2(ACD):c.590G>T (p.Gly197Val)
NM_001082486.2(ACD):c.599C>T (p.Thr200Ile)
NM_001082486.2(ACD):c.602C>T (p.Ala201Val)
NM_001082486.2(ACD):c.644C>T (p.Thr215Met) rs72547495
NM_001082486.2(ACD):c.645G>A (p.Thr215=) rs571116752
NM_001082486.2(ACD):c.734G>A (p.Arg245Lys) rs1048865744
NM_001082486.2(ACD):c.737C>A (p.Thr246Lys) rs1555542235
NM_001082486.2(ACD):c.739C>A (p.Gln247Lys) rs1597770431
NM_001082486.2(ACD):c.741G>C (p.Gln247His) rs776468683
NM_001082486.2(ACD):c.767C>T (p.Pro256Leu)
NM_001082486.2(ACD):c.781C>G (p.Leu261Val) rs760404492
NM_001082486.2(ACD):c.793C>G (p.Leu265Val)
NM_001082486.2(ACD):c.809C>T (p.Pro270Leu) rs1035052101
NM_001082486.2(ACD):c.830-1G>A rs1597769397
NM_001082486.2(ACD):c.853A>G (p.Met285Val)
NM_001082486.2(ACD):c.950C>T (p.Pro317Leu)
NM_001082486.2(ACD):c.962C>T (p.Ser321Leu) rs374925782
NM_001082486.2(ACD):c.974C>A (p.Thr325Asn) rs777812658
NM_001082486.2(ACD):c.974C>T (p.Thr325Ile) rs777812658
NM_001082486.2(ACD):c.997G>A (p.Ala333Thr) rs202104741

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