ClinVar Miner

List of variants studied for anemia by Breakthrough Genomics, Breakthrough Genomics

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000324.3(RHAG):c.836G>A (p.Gly279Glu) rs121918587
NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr) rs782322505
NM_006996.3(SLC19A2):c.1223+1G>A
NM_006996.3(SLC19A2):c.566_567delinsTCT (p.Ser189fs)
NM_080669.6(SLC46A1):c.1173_1174del (p.Ser393fs)

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