ClinVar Miner

List of variants studied for anemia by Genomic Medicine Lab, University of California San Francisco

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_001287444.2(DCDC2C):c.955-1G>C rs1167362443 0.00001
NM_000032.5(ALAS2):c.304+2T>A
NM_000184.3(HBG2):c.86T>A (p.Leu29Gln)
NM_001142864.4(PIEZO1):c.1381C>T (p.Gln461Ter)

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