ClinVar Miner

List of variants studied for anemia (disease) by GenomeConnect, ClinGen

Included ClinVar conditions (281):
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Total variants: 16
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HGVS dbSNP
NC_000016.9:g.223300_227103del
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000289.6(PFKM):c.59T>C (p.Val20Ala) rs755992543
NM_000324.2(RHAG):c.808G>A (p.Val270Ile) rs16879498
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_001081.3(CUBN):c.7646C>T (p.Thr2549Met) rs537292240
NM_014646.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala) rs138023744
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu) rs980145400
NM_024675.3(PALB2):c.2368C>T (p.Gln790Ter) rs886039480
NM_024675.3(PALB2):c.298C>T (p.Leu100Phe) rs61756147
NM_182916.3(TRNT1):c.811G>A (p.Ala271Thr) rs1553555777
NM_203342.2(EPB41):c.1378G>C (p.Ala460Pro) rs199764020

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