ClinVar Miner

List of variants in gene C3 studied for anemia (disease)

Included ClinVar conditions (263):
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Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP
NM_000064.4(C3):c.-28C>G rs339394
NM_000064.4(C3):c.-3_-2dup rs528697923
NM_000064.4(C3):c.1042A>G (p.Ile348Val) rs141737564
NM_000064.4(C3):c.1119+14C>T rs374368486
NM_000064.4(C3):c.1119+15G>A rs114252882
NM_000064.4(C3):c.1164C>T (p.Pro388=) rs769368306
NM_000064.4(C3):c.1269+14C>A rs886054655
NM_000064.4(C3):c.1303G>A (p.Glu435Lys) rs774826179
NM_000064.4(C3):c.1407G>C (p.Glu469Asp) rs11569422
NM_000064.4(C3):c.1554C>A (p.Pro518=) rs2230203
NM_000064.4(C3):c.1623C>T (p.Ser541=) rs202078483
NM_000064.4(C3):c.1653G>T (p.Val551=) rs344534
NM_000064.4(C3):c.1692G>A (p.Val564=) rs2230204
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.1775G>A (p.Arg592Gln) rs121909583
NM_000064.4(C3):c.1819A>G (p.Lys607Glu) rs140637006
NM_000064.4(C3):c.1836G>A (p.Thr612=) rs2230205
NM_000064.4(C3):c.1855G>A (p.Val619Met) rs146613648
NM_000064.4(C3):c.1873A>T (p.Ile625Phe) rs144432231
NM_000064.4(C3):c.1898A>G (p.Lys633Arg) rs140655115
NM_000064.4(C3):c.1921G>A (p.Asp641Asn) rs1348311492
NM_000064.4(C3):c.2048-14_2048-13del rs140718871
NM_000064.4(C3):c.2067G>A (p.Glu689=) rs147477257
NM_000064.4(C3):c.2184C>T (p.Cys728=) rs200258941
NM_000064.4(C3):c.2203C>T (p.Arg735Trp) rs117793540
NM_000064.4(C3):c.2245+15G>A rs11569434
NM_000064.4(C3):c.2246-8C>T rs406514
NM_000064.4(C3):c.2394C>T (p.Ser798=) rs112178657
NM_000064.4(C3):c.2403G>A (p.Thr801=) rs886054654
NM_000064.4(C3):c.2421G>C (p.Val807=) rs428453
NM_000064.4(C3):c.2430G>A (p.Ser810=) rs2230207
NM_000064.4(C3):c.2450T>A (p.Val817Glu) rs886054653
NM_000064.4(C3):c.2562C>G (p.Tyr854Ter) rs121909586
NM_000064.4(C3):c.2700C>G (p.Ile900Met) rs763155610
NM_000064.4(C3):c.2715C>T (p.Thr905=) rs2230208
NM_000064.4(C3):c.2745T>C (p.Ala915=) rs423490
NM_000064.4(C3):c.2799G>A (p.Pro933=) rs149209011
NM_000064.4(C3):c.2857G>A (p.Gly953Ser) rs779124363
NM_000064.4(C3):c.2863+7C>T rs2287845
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609
NM_000064.4(C3):c.2907C>T (p.Asp969=) rs144672500
NM_000064.4(C3):c.2951-5_2951-3del
NM_000064.4(C3):c.3216G>T (p.Arg1072=) rs137880434
NM_000064.4(C3):c.3281C>T (p.Ala1094Val) rs121909584
NM_000064.4(C3):c.3299T>C (p.Leu1100Pro) rs750654763
NM_000064.4(C3):c.3343G>A (p.Asp1115Asn) rs121909585
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534
NM_000064.4(C3):c.3687C>T (p.Asn1229=) rs201108539
NM_000064.4(C3):c.3753C>A (p.Pro1251=) rs2230209
NM_000064.4(C3):c.3908G>A (p.Arg1303His) rs775015499
NM_000064.4(C3):c.3993A>G (p.Thr1331=) rs202210310
NM_000064.4(C3):c.4030-4C>T rs372612816
NM_000064.4(C3):c.4095C>G (p.Val1365=) rs527830114
NM_000064.4(C3):c.4120+8G>T rs886054652
NM_000064.4(C3):c.4311C>T (p.Ala1437=) rs7951
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.4457-4G>A rs2277984
NM_000064.4(C3):c.4457-5C>T rs344554
NM_000064.4(C3):c.4535G>A (p.Arg1512His) rs142868256
NM_000064.4(C3):c.4631-8C>T rs11569565
NM_000064.4(C3):c.4631-9C>T rs116302413
NM_000064.4(C3):c.4635C>T (p.Tyr1545=) rs189948635
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) rs149202905
NM_000064.4(C3):c.4759C>T (p.Pro1587Ser) rs746985605
NM_000064.4(C3):c.4767G>A (p.Lys1589=) rs144589541
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.4855A>C (p.Ser1619Arg) rs2230210
NM_000064.4(C3):c.4896C>T (p.Pro1632=) rs17030
NM_000064.4(C3):c.4941G>A (p.Gln1647=) rs780251209
NM_000064.4(C3):c.588G>A (p.Pro196=) rs150007726
NM_000064.4(C3):c.600-14C>T rs3745558
NM_000064.4(C3):c.640C>T (p.Pro214Ser) rs794729228
NM_000064.4(C3):c.681C>T (p.Tyr227=) rs756694755
NM_000064.4(C3):c.741C>T (p.Asn247=) rs11569571
NM_000064.4(C3):c.769G>A (p.Ala257Thr) rs200918899
NM_000064.4(C3):c.774-4G>A rs368095422
NM_000064.4(C3):c.783C>T (p.Tyr261=) rs2230200
NM_000064.4(C3):c.819C>T (p.Phe273=) rs886054656
NM_000064.4(C3):c.912G>A (p.Arg304=) rs2230201
NM_000064.4(C3):c.941C>T (p.Pro314Leu) rs1047286

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