ClinVar Miner

List of variants studied for anemia (disease) by Degerman lab,Umeå University

Included ClinVar conditions (262):
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ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_001099274.3(TINF2):c.845G>A (p.Arg282His) rs121918544
NM_001363.5(DKC1):c.203A>G (p.His68Arg) rs1557264102
NM_198253.2(TERT):c.1892G>A (p.Arg631Gln) rs199422294
NM_198253.2(TERT):c.2051A>G (p.Asp684Gly) rs776981958
NM_198253.2(TERT):c.2287-5G>A rs561426406
NM_198253.2(TERT):c.2320C>T (p.Arg774Ter) rs770066110
NM_198253.2(TERT):c.3399A>G (p.Ter1133Trp) rs1554038048
NR_001566.1(TERC):n.107G>T rs1553915617
NR_001566.1(TERC):n.122_125delGCGG rs1553915612
NR_001566.1(TERC):n.407_408delinsAA rs1553915580
NR_001566.1(TERC):n.69_74dup rs1553915621

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