ClinVar Miner

List of variants studied for hematologic disorder by Department of Traditional Chinese Medicine, Fujian Provincial Hospital

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.700G>A (p.Asp234Asn) rs45589033 0.00004
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter) rs773159223 0.00002
NM_000398.7(CYB5R3):c.611G>A (p.Cys204Tyr) rs121965015 0.00002
NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln) rs768002493 0.00001
NC_000016.9:g.(?_89865477)_(89895213_?)del
NM_000313.4(PROS1):c.1820T>C (p.Leu607Ser) rs2107125044
NM_000398.7(CYB5R3):c.906A>G (p.Ter302Trp)

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