ClinVar Miner

List of variants studied for hematologic disorder by Pathology Department, Puerta del Mar University Hospital

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_213647.3(FGFR4):c.407C>T (p.Pro136Leu) rs376618 0.73741
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_000142.5(FGFR3):c.1181C>T (p.Thr394Met) rs747694886 0.00006
NM_002467.6(MYC):c.77A>G (p.Asn26Ser) rs4645959
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) rs121913527

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