ClinVar Miner

List of variants in gene VWF reported as uncertain significance by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.5765G>A (p.Gly1922Glu) rs1048674696 0.00001
NM_000552.5(VWF):c.1916G>A (p.Arg639His) rs2136454101
NM_000552.5(VWF):c.2174A>G (p.His725Arg) rs2136449433
NM_000552.5(VWF):c.2182A>G (p.Met728Val) rs1944527524
NM_000552.5(VWF):c.2981G>T (p.Gly994Val) rs1591867991
NM_000552.5(VWF):c.3286G>C (p.Asp1096His) rs748673885
NM_000552.5(VWF):c.3688G>A (p.Val1230Ile) rs2136414039
NM_000552.5(VWF):c.3806A>T (p.Asp1269Val) rs2136413788
NM_000552.5(VWF):c.3807T>A (p.Asp1269Glu) rs2136413783
NM_000552.5(VWF):c.4163A>G (p.Gln1388Arg) rs1944101095
NM_000552.5(VWF):c.4414G>A (p.Asp1472Asn) rs1800383
NM_000552.5(VWF):c.4922G>A (p.Arg1641Lys) rs1944088119
NM_000552.5(VWF):c.5029A>G (p.Ile1677Val) rs1242618824
NM_000552.5(VWF):c.5694G>C (p.Gln1898His) rs1218412177
NM_000552.5(VWF):c.5729C>T (p.Thr1910Ile) rs2136403566
NM_000552.5(VWF):c.575C>T (p.Ala192Val) rs2136500405
NM_000552.5(VWF):c.6123C>A (p.Asn2041Lys) rs1943786371
NM_000552.5(VWF):c.6136A>G (p.Ile2046Val) rs2136386032
NM_000552.5(VWF):c.6446A>G (p.Glu2149Gly) rs1397931528
NM_000552.5(VWF):c.6449G>C (p.Cys2150Ser) rs2136385448
NM_000552.5(VWF):c.6455A>G (p.Lys2152Arg) rs2136385431
NM_000552.5(VWF):c.6677C>T (p.Ser2226Phe) rs181987927
NM_000552.5(VWF):c.7114C>T (p.Pro2372Ser) rs2136371404
NM_000552.5(VWF):c.7201T>G (p.Ser2401Ala) rs2136371219
NM_000552.5(VWF):c.7712G>A (p.Cys2571Tyr) rs1258347142
NM_000552.5(VWF):c.8195A>G (p.Gln2732Arg) rs1443181806
NM_000552.5(VWF):c.8401G>A (p.Ala2801Thr) rs2136336158
NM_000552.5(VWF):c.960G>A (p.Met320Ile) rs2136472049

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