ClinVar Miner

List of variants in gene DCLRE1B studied for anemia (disease)

Included ClinVar conditions (262):
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Total variants: 22
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HGVS dbSNP
NM_022836.4(DCLRE1B):c.10G>A (p.Val4Ile) rs1437958560
NM_022836.4(DCLRE1B):c.1149G>A (p.Ala383=) rs759682384
NM_022836.4(DCLRE1B):c.1163A>G (p.Gln388Arg)
NM_022836.4(DCLRE1B):c.1183C>T (p.Arg395Trp)
NM_022836.4(DCLRE1B):c.1253C>T (p.Ser418Phe)
NM_022836.4(DCLRE1B):c.1256A>G (p.Gln419Arg)
NM_022836.4(DCLRE1B):c.136C>T (p.Arg46Trp)
NM_022836.4(DCLRE1B):c.137G>T (p.Arg46Leu)
NM_022836.4(DCLRE1B):c.1384G>A (p.Asp462Asn) rs28381079
NM_022836.4(DCLRE1B):c.1456dup (p.Ser486fs) rs779442399
NM_022836.4(DCLRE1B):c.1461C>G (p.Ser487Arg) rs1558110707
NM_022836.4(DCLRE1B):c.1528A>T (p.Asn510Tyr) rs35397235
NM_022836.4(DCLRE1B):c.218A>C (p.Glu73Ala) rs770692934
NM_022836.4(DCLRE1B):c.274G>A (p.Val92Ile)
NM_022836.4(DCLRE1B):c.279C>T (p.Thr93=) rs144640614
NM_022836.4(DCLRE1B):c.77T>G (p.Leu26Arg) rs1553260999
NM_022836.4(DCLRE1B):c.78_80CTT[2] (p.Phe28del) rs763030449
NM_022836.4(DCLRE1B):c.847C>T (p.Arg283Cys) rs145569979
NM_022836.4(DCLRE1B):c.892G>A (p.Val298Ile)
NM_022836.4(DCLRE1B):c.923A>G (p.Asp308Gly) rs1199130382
NM_022836.4(DCLRE1B):c.946G>A (p.Val316Met)
NM_022836.4(DCLRE1B):c.950C>G (p.Pro317Arg)

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