ClinVar Miner

List of variants in gene ACD reported as uncertain significance for anemia (disease)

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_001082486.1(ACD):c.137delG (p.Arg46Leufs) rs753666055
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.1025A>G (p.Gln342Arg) rs1567640107
NM_001082486.2(ACD):c.109G>A (p.Asp37Asn) rs142662151
NM_001082486.2(ACD):c.1178G>A (p.Arg393Lys)
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.350A>G (p.Tyr117Cys)
NM_001082486.2(ACD):c.482C>T (p.Ser161Leu)
NM_001082486.2(ACD):c.4G>C (p.Ala2Pro)
NM_001082486.2(ACD):c.644C>T (p.Thr215Met)
NM_001082486.2(ACD):c.645G>A (p.Thr215=)
NM_001082486.2(ACD):c.734G>A (p.Arg245Lys)
NM_001082486.2(ACD):c.737C>A (p.Thr246Lys) rs1555542235
NM_001082486.2(ACD):c.739C>A (p.Gln247Lys)
NM_001082486.2(ACD):c.741G>C (p.Gln247His)
NM_001082486.2(ACD):c.781C>G (p.Leu261Val)
NM_001082486.2(ACD):c.809C>T (p.Pro270Leu)
NM_001082486.2(ACD):c.830-1G>A
NM_001082486.2(ACD):c.962C>T (p.Ser321Leu)
NM_001082486.2(ACD):c.974C>A (p.Thr325Asn)
NM_001082486.2(ACD):c.974C>T (p.Thr325Ile)
NM_001082486.2(ACD):c.997G>A (p.Ala333Thr) rs202104741

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