ClinVar Miner

List of variants studied for anemia by Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_000518.5(HBB):c.316-30A>C rs193922558 0.00005
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102 0.00001
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln) rs104894809 0.00001
NM_000298.6(PKLR):c.1076G>C (p.Arg359Pro)
NM_000518.5(HBB):c.93-22_95del rs193922563
NM_001355436.2(SPTB):c.4843-1G>C
NM_182916.3(TRNT1):c.498_501del (p.Phe167fs) rs754883449

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