ClinVar Miner

List of variants in gene ACD studied for anemia (disease)

Included ClinVar conditions (258):
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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_001082486.1(ACD):c.1059C>T (p.Ala353=) rs72549181
NM_001082486.1(ACD):c.1077C>T (p.Pro359=) rs138740815
NM_001082486.1(ACD):c.1181G>A (p.Gly394Glu) rs147189192
NM_001082486.1(ACD):c.137delG (p.Arg46Leufs) rs753666055
NM_001082486.1(ACD):c.1465-10C>T rs67185288
NM_001082486.1(ACD):c.1471C>A (p.Pro491Thr) rs201441120
NM_001082486.1(ACD):c.14G>A (p.Cys5Tyr) rs1555542868
NM_001082486.1(ACD):c.1564C>T (p.Pro522Ser) rs201926842
NM_001082486.1(ACD):c.1629G>T (p.Pro543=) rs14920
NM_001082486.1(ACD):c.162C>T (p.Pro54=) rs73597595
NM_001082486.1(ACD):c.222C>T (p.Asn74=) rs1377497479
NM_001082486.1(ACD):c.280G>A (p.Val94Ile) rs149365469
NM_001082486.1(ACD):c.338G>A (p.Arg113Gln) rs142507451
NM_001082486.1(ACD):c.367G>A (p.Asp123Asn) rs142662151
NM_001082486.1(ACD):c.390C>T (p.Gly130=) rs138527794
NM_001082486.1(ACD):c.508_510delAAG (p.Lys170del) rs797045144
NM_001082486.1(ACD):c.671+7G>A rs1017802690
NM_001082486.1(ACD):c.702C>T (p.Leu234=) rs151132164
NM_001082486.1(ACD):c.871A>G (p.Thr291Ala) rs139438549
NM_001082486.1(ACD):c.995C>A (p.Thr332Lys) rs1555542235
NM_001082486.2(ACD):c.-188_-187inv (p.Trp24Ser)
NM_001082486.2(ACD):c.1025A>G (p.Gln342Arg)
NM_001082486.2(ACD):c.482C>T (p.Ser161Leu)
NM_001082486.2(ACD):c.644C>T (p.Thr215Met)
NM_001082486.2(ACD):c.741G>C (p.Gln247His)
NM_001082486.2(ACD):c.809C>T (p.Pro270Leu)
NM_001082486.2(ACD):c.974C>A (p.Thr325Asn)
NM_001082486.2(ACD):c.974C>T (p.Thr325Ile)

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