ClinVar Miner

List of variants in gene C3 reported as uncertain significance for anemia (disease)

Included ClinVar conditions (263):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_000064.4(C3):c.1164C>T (p.Pro388=) rs769368306
NM_000064.4(C3):c.1269+14C>A rs886054655
NM_000064.4(C3):c.1758G>A (p.Glu586=) rs764201055
NM_000064.4(C3):c.1767C>T (p.His589=) rs775843240
NM_000064.4(C3):c.1819A>G (p.Lys607Glu) rs140637006
NM_000064.4(C3):c.1921G>A (p.Asp641Asn) rs1348311492
NM_000064.4(C3):c.2403G>A (p.Thr801=) rs886054654
NM_000064.4(C3):c.2450T>A (p.Val817Glu) rs886054653
NM_000064.4(C3):c.2700C>G (p.Ile900Met) rs763155610
NM_000064.4(C3):c.2857G>A (p.Gly953Ser) rs779124363
NM_000064.4(C3):c.2907C>T (p.Asp969=) rs144672500
NM_000064.4(C3):c.2951-5_2951-3del
NM_000064.4(C3):c.3299T>C (p.Leu1100Pro) rs750654763
NM_000064.4(C3):c.3687C>T (p.Asn1229=) rs201108539
NM_000064.4(C3):c.4095C>G (p.Val1365=) rs527830114
NM_000064.4(C3):c.4120+8G>T rs886054652
NM_000064.4(C3):c.4319A>C (p.Asp1440Ala) rs147116781
NM_000064.4(C3):c.443G>A (p.Arg148Gln) rs886054657
NM_000064.4(C3):c.4535G>A (p.Arg1512His) rs142868256
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257
NM_000064.4(C3):c.4759C>T (p.Pro1587Ser) rs746985605
NM_000064.4(C3):c.4803C>T (p.His1601=) rs762332809
NM_000064.4(C3):c.4827C>T (p.Ser1609=) rs150537373
NM_000064.4(C3):c.4850+12C>A rs748416799
NM_000064.4(C3):c.4941G>A (p.Gln1647=) rs780251209
NM_000064.4(C3):c.681C>T (p.Tyr227=) rs756694755
NM_000064.4(C3):c.769G>A (p.Ala257Thr) rs200918899
NM_000064.4(C3):c.819C>T (p.Phe273=) rs886054656

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