ClinVar Miner

List of variants studied for anemia by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.6531-12C>T rs28525570 0.25447
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515 0.25425
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter) rs121918225 0.00004
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000175.5(GPI):c.572A>G (p.His191Arg) rs758281551 0.00001
NM_000298.6(PKLR):c.1291G>A (p.Ala431Thr) rs762591322 0.00001
NM_001374504.1(TMPRSS6):c.1768C>T (p.Arg590Ter) rs137853123 0.00001
NM_000975.5(RPL11):c.142_143dup (p.Val49fs) rs1570566714
NM_001018115.3(FANCD2):c.3219del (p.Phe1073fs) rs1575824608
NM_001018115.3(FANCD2):c.39dup (p.Glu14fs) rs1575723664
NM_001029.5(RPS26):c.312+2T>A rs1593023809
NM_001754.5(RUNX1):c.502G>T (p.Gly168Ter) rs1569078784
NM_002049.4(GATA1):c.680C>T (p.Ala227Val) rs1602220307
NM_002524.5(NRAS):c.176C>A (p.Ala59Asp)
NM_003126.4(SPTA1):c.2353C>T (p.Arg785Ter) rs2022057
NM_003126.4(SPTA1):c.2464+1G>A rs774632615
NM_003126.4(SPTA1):c.4177C>T (p.Gln1393Ter) rs1571436535
NM_003126.4(SPTA1):c.6549-12G>A rs857716
NM_006363.6(SEC23B):c.2237C>A (p.Thr746Asn) rs1600288964
NM_198291.3(SRC):c.1579G>A (p.Glu527Lys) rs879255268
Single allele

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