ClinVar Miner

List of variants in gene VWF reported as likely pathogenic by Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico

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Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_000552.5(VWF):c.100C>T (p.Arg34Ter) rs61753984 0.00001
NM_000552.5(VWF):c.1534-3C>A rs61754009 0.00001
NM_000552.5(VWF):c.2269_2270del (p.Leu757fs) rs61748465 0.00001
NM_000552.5(VWF):c.2560C>T (p.Arg854Trp) rs61748482 0.00001
NM_000552.5(VWF):c.3108+5G>A rs61748495 0.00001
NM_000552.5(VWF):c.6634T>C (p.Cys2212Arg) rs1943750562 0.00001
NM_000552.5(VWF):c.7408C>T (p.Gln2470Ter) rs61751288 0.00001
NM_000552.5(VWF):c.8216G>A (p.Cys2739Tyr) rs61751305 0.00001
NM_000552.5(VWF):c.1051del (p.Val351fs) rs2136470584
NM_000552.5(VWF):c.1583A>G (p.Asn528Ser) rs61754010
NM_000552.5(VWF):c.1931_1945+5del rs2136454053
NM_000552.5(VWF):c.2157del (p.Asp720fs) rs62643628
NM_000552.5(VWF):c.2311A>G (p.Met771Val) rs1212894308
NM_000552.5(VWF):c.2376C>G (p.Cys792Trp) rs2136440319
NM_000552.5(VWF):c.2443-1G>C rs61748480
NM_000552.5(VWF):c.2546+3G>C rs1565838728
NM_000552.5(VWF):c.2546G>A (p.Cys849Tyr) rs772796741
NM_000552.5(VWF):c.3467C>T (p.Thr1156Met) rs267607328
NM_000552.5(VWF):c.3515G>T (p.Gly1172Val) rs1555195293
NM_000552.5(VWF):c.3568T>C (p.Cys1190Arg) rs61749364
NM_000552.5(VWF):c.3675-1G>A rs746457842
NM_000552.5(VWF):c.3679T>C (p.Cys1227Arg) rs61749366
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3802C>G (p.His1268Asp) rs61749371
NM_000552.5(VWF):c.3831_3833del (p.Asp1277_Leu1278delinsGlu) rs61749375
NM_000552.5(VWF):c.3923G>T (p.Arg1308Leu) rs61749388
NM_000552.5(VWF):c.3928T>C (p.Ser1310Pro) rs2136413535
NM_000552.5(VWF):c.3962A>G (p.Tyr1321Cys) rs1591863294
NM_000552.5(VWF):c.4247T>A (p.Ile1416Asn) rs61750081
NM_000552.5(VWF):c.4470del (p.Lys1491fs) rs2136412494
NM_000552.5(VWF):c.449T>C (p.Leu150Pro) rs61753994
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu) rs61750100
NM_000552.5(VWF):c.4551C>G (p.Ser1517Arg) rs2136412350
NM_000552.5(VWF):c.4825G>A (p.Gly1609Arg) rs61750580
NM_000552.5(VWF):c.4885G>C (p.Gly1629Arg) rs61750585
NM_000552.5(VWF):c.4892G>A (p.Gly1631Asp) rs2136411659
NM_000552.5(VWF):c.4970T>C (p.Leu1657Pro) rs61750593
NM_000552.5(VWF):c.4994T>A (p.Val1665Glu) rs61750596
NM_000552.5(VWF):c.5085_5087del (p.Leu1696del) rs2136409523
NM_000552.5(VWF):c.5170+1G>A rs764543553
NM_000552.5(VWF):c.533-2A>G rs267607301
NM_000552.5(VWF):c.592C>T (p.Gln198Ter) rs2136500386
NM_000552.5(VWF):c.6227del (p.Thr2076fs) rs2136385937
NM_000552.5(VWF):c.6551G>C (p.Cys2184Ser) rs2136385288
NM_000552.5(VWF):c.6847T>C (p.Cys2283Arg) rs2136376158
NM_000552.5(VWF):c.6911G>A (p.Cys2304Tyr) rs61750626
NM_000552.5(VWF):c.6917del (p.Leu2306fs) rs2136375588
NM_000552.5(VWF):c.6973T>A (p.Cys2325Ser) rs1256082707
NM_000552.5(VWF):c.7082-2A>G rs267607358
NM_000552.5(VWF):c.7730-1G>C rs267607366
NM_000552.5(VWF):c.7770+1G>T rs200770256
NM_000552.5(VWF):c.8012G>A (p.Cys2671Tyr) rs61751303
NM_000552.5(VWF):c.8155+1G>T rs1943194455
NM_000552.5(VWF):c.8155+3G>C rs61751304
NM_000552.5(VWF):c.8155+6T>C rs1223422347
NM_000552.5(VWF):c.823T>A (p.Cys275Ser) rs61753998
NM_000552.5(VWF):c.823T>C (p.Cys275Arg) rs61753998
NM_000552.5(VWF):c.8244_8252del (p.His2748_Cys2750del) rs267607368

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