ClinVar Miner

List of variants reported as benign for familial hemolytic anemia by Mendelics

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001243177.4(ALDOA):c.1161+17G>T rs2071390 0.13976
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036 0.05002
NG_012820.2(ANK1):g.104117T>C rs77173848 0.04675
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644 0.00284
NM_000037.4(ANK1):c.*36+989dup rs59908561

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