ClinVar Miner

List of variants reported as benign for anemia by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000037.4(ANK1):c.5096+16T>C rs508112 0.97818
NM_000037.4(ANK1):c.5479-3T>C rs515071 0.75703
NM_000037.4(ANK1):c.315C>T (p.Asn105=) rs2304871 0.23757
NM_000037.4(ANK1):c.5265G>A (p.Val1755=) rs750625 0.21708
NM_000037.4(ANK1):c.2349C>T (p.Thr783=) rs2304880 0.21375
NM_001386140.1(MTTP):c.1769+14C>T rs41275713 0.03960
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu) rs17599091 0.03958
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser) rs113337987 0.02355
NM_000037.4(ANK1):c.2913G>C (p.Leu971=) rs504574

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