ClinVar Miner

List of variants in gene VWF reported as uncertain significance for Inborn genetic diseases

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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000552.5(VWF):c.2071C>A (p.Pro691Thr) rs199623726 0.00016
NM_000552.5(VWF):c.8336C>T (p.Thr2779Met) rs374314985 0.00013
NM_000552.5(VWF):c.5287C>T (p.Arg1763Trp) rs763126601 0.00004
NM_000552.5(VWF):c.3752C>T (p.Pro1251Leu) rs770872838 0.00003
NM_000552.5(VWF):c.1191G>C (p.Lys397Asn) rs745975177 0.00001
NM_000552.5(VWF):c.338A>G (p.Tyr113Cys) rs374854636 0.00001
NM_000552.5(VWF):c.5453A>G (p.Asn1818Ser) rs61750608 0.00001
NM_000552.5(VWF):c.6196A>G (p.Asn2066Asp) rs886049738 0.00001
NM_000552.5(VWF):c.1213A>G (p.Thr405Ala)
NM_000552.5(VWF):c.1280T>C (p.Ile427Thr)
NM_000552.5(VWF):c.1295G>T (p.Cys432Phe)
NM_000552.5(VWF):c.1351C>A (p.Leu451Met)
NM_000552.5(VWF):c.171C>G (p.Cys57Trp)
NM_000552.5(VWF):c.1957C>T (p.Pro653Ser)
NM_000552.5(VWF):c.2023C>A (p.Pro675Thr)
NM_000552.5(VWF):c.2291G>A (p.Ser764Asn)
NM_000552.5(VWF):c.2438G>A (p.Gly813Asp)
NM_000552.5(VWF):c.2536T>G (p.Cys846Gly)
NM_000552.5(VWF):c.2540A>G (p.Asn847Ser)
NM_000552.5(VWF):c.2554C>G (p.Gln852Glu)
NM_000552.5(VWF):c.270A>C (p.Glu90Asp)
NM_000552.5(VWF):c.3023C>A (p.Thr1008Asn)
NM_000552.5(VWF):c.3095C>T (p.Ala1032Val)
NM_000552.5(VWF):c.3451C>T (p.Pro1151Ser)
NM_000552.5(VWF):c.3452C>T (p.Pro1151Leu)
NM_000552.5(VWF):c.3550G>A (p.Asp1184Asn)
NM_000552.5(VWF):c.3611G>A (p.Arg1204Gln)
NM_000552.5(VWF):c.3685G>A (p.Val1229Ile)
NM_000552.5(VWF):c.3967G>A (p.Asp1323Asn)
NM_000552.5(VWF):c.4017G>C (p.Glu1339Asp)
NM_000552.5(VWF):c.4025G>A (p.Arg1342His)
NM_000552.5(VWF):c.413C>T (p.Ala138Val)
NM_000552.5(VWF):c.4258G>A (p.Ala1420Thr)
NM_000552.5(VWF):c.4330G>A (p.Asp1444Asn)
NM_000552.5(VWF):c.4411C>A (p.Pro1471Thr)
NM_000552.5(VWF):c.4705C>T (p.Arg1569Cys)
NM_000552.5(VWF):c.4842T>G (p.Asp1614Glu)
NM_000552.5(VWF):c.4912G>C (p.Glu1638Gln)
NM_000552.5(VWF):c.5099C>T (p.Ser1700Phe)
NM_000552.5(VWF):c.5136T>A (p.Ser1712Arg)
NM_000552.5(VWF):c.5246C>T (p.Pro1749Leu)
NM_000552.5(VWF):c.5323G>C (p.Gly1775Arg)
NM_000552.5(VWF):c.5426A>G (p.Asp1809Gly)
NM_000552.5(VWF):c.5489G>A (p.Arg1830His)
NM_000552.5(VWF):c.5494G>A (p.Asp1832Asn)
NM_000552.5(VWF):c.5719G>C (p.Asp1907His)
NM_000552.5(VWF):c.5816C>A (p.Thr1939Asn)
NM_000552.5(VWF):c.5993G>A (p.Arg1998Lys)
NM_000552.5(VWF):c.6112A>G (p.Met2038Val)
NM_000552.5(VWF):c.6163C>T (p.Leu2055Phe)
NM_000552.5(VWF):c.6358G>A (p.Gly2120Arg)
NM_000552.5(VWF):c.6413A>G (p.His2138Arg)
NM_000552.5(VWF):c.6541G>A (p.Ala2181Thr)
NM_000552.5(VWF):c.6547C>T (p.Leu2183Phe)
NM_000552.5(VWF):c.6768G>C (p.Gln2256His)
NM_000552.5(VWF):c.6818C>T (p.Pro2273Leu)
NM_000552.5(VWF):c.6896C>T (p.Ala2299Val)
NM_000552.5(VWF):c.7175A>G (p.Tyr2392Cys)
NM_000552.5(VWF):c.7212C>G (p.Ser2404Arg)
NM_000552.5(VWF):c.7237A>T (p.Thr2413Ser)
NM_000552.5(VWF):c.7301G>A (p.Arg2434Gln)
NM_000552.5(VWF):c.7565C>T (p.Ala2522Val)
NM_000552.5(VWF):c.764G>T (p.Cys255Phe)
NM_000552.5(VWF):c.7759A>T (p.Thr2587Ser)
NM_000552.5(VWF):c.7810C>T (p.Arg2604Cys)
NM_000552.5(VWF):c.796C>G (p.Pro266Ala)
NM_000552.5(VWF):c.8045G>A (p.Gly2682Glu)
NM_000552.5(VWF):c.8087T>C (p.Phe2696Ser)
NM_000552.5(VWF):c.8366C>A (p.Thr2789Asn) rs371036946
NM_000552.5(VWF):c.868G>C (p.Ala290Pro)
NM_000552.5(VWF):c.869C>A (p.Ala290Glu)

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