ClinVar Miner

List of variants reported as likely pathogenic for Von Willebrand disease, recessive form

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Total variants: 45
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HGVS dbSNP
NM_000552.4(VWF):c.100C>T (p.Arg34Ter) rs61753984
NM_000552.4(VWF):c.1534-3C>A rs61754009
NM_000552.4(VWF):c.2157del (p.Asp720fs) rs62643628
NM_000552.4(VWF):c.2269_2270del (p.Leu757fs) rs61748465
NM_000552.4(VWF):c.2443-1G>C rs61748480
NM_000552.4(VWF):c.2516del (p.Gly839fs) rs61748481
NM_000552.4(VWF):c.2560C>T (p.Arg854Trp) rs61748482
NM_000552.4(VWF):c.3467C>T (p.Thr1156Met) rs267607328
NM_000552.4(VWF):c.3568T>C (p.Cys1190Arg) rs61749364
NM_000552.4(VWF):c.3675-1G>A rs746457842
NM_000552.4(VWF):c.3679T>C (p.Cys1227Arg) rs61749366
NM_000552.4(VWF):c.449T>C (p.Leu150Pro) rs61753994
NM_000552.4(VWF):c.533-2A>G rs267607301
NM_000552.4(VWF):c.533-48_657+52del rs1591914708
NM_000552.4(VWF):c.6911G>A (p.Cys2304Tyr) rs61750626
NM_000552.4(VWF):c.7082-2A>G rs267607358
NM_000552.4(VWF):c.7399C>T (p.Gln2467Ter) rs1591838792
NM_000552.4(VWF):c.7408C>T (p.Gln2470Ter) rs61751288
NM_000552.4(VWF):c.7664_7665insAG (p.Cys2557fs) rs267607364
NM_000552.4(VWF):c.7730-1G>C rs267607366
NM_000552.4(VWF):c.7730-1G>T rs267607366
NM_000552.4(VWF):c.7863del (p.Thr2622fs) rs1591834850
NM_000552.4(VWF):c.8012G>A (p.Cys2671Tyr) rs61751303
NM_000552.4(VWF):c.8155+3G>C rs61751304
NM_000552.4(VWF):c.8216G>A (p.Cys2739Tyr) rs61751305
NM_000552.4(VWF):c.823T>A (p.Cys275Ser) rs61753998
NM_000552.4(VWF):c.8244_8252del (p.His2748_Cys2750del) rs267607368
NM_000552.5(VWF):c.1051del (p.Val351fs)
NM_000552.5(VWF):c.1931_1945+5del
NM_000552.5(VWF):c.2311A>G (p.Met771Val)
NM_000552.5(VWF):c.2376C>G (p.Cys792Trp)
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser)
NM_000552.5(VWF):c.4470del (p.Lys1491fs)
NM_000552.5(VWF):c.5085_5087del (p.Leu1696del)
NM_000552.5(VWF):c.5170+1G>A
NM_000552.5(VWF):c.592C>T (p.Gln198Ter)
NM_000552.5(VWF):c.6227del (p.Thr2076fs)
NM_000552.5(VWF):c.6551G>C (p.Cys2184Ser)
NM_000552.5(VWF):c.6634T>C (p.Cys2212Arg)
NM_000552.5(VWF):c.6847T>C (p.Cys2283Arg)
NM_000552.5(VWF):c.6917del (p.Leu2306fs)
NM_000552.5(VWF):c.6973T>A (p.Cys2325Ser)
NM_000552.5(VWF):c.7770+1G>T
NM_000552.5(VWF):c.8155+1G>T
NM_000552.5(VWF):c.8155+6T>C

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