ClinVar Miner

List of variants in gene VWF reported by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.6532G>T (p.Ala2178Ser) rs34230288 0.01330
NM_000552.5(VWF):c.2771G>A (p.Arg924Gln) rs33978901 0.01237
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_000552.5(VWF):c.5173C>T (p.Pro1725Ser) rs78302129 0.00774
NM_000552.5(VWF):c.2510C>A (p.Ala837Asp) rs75645183 0.00739
NM_000552.5(VWF):c.5170+10C>T rs61750601 0.00400
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp) rs61750625 0.00217
NM_000552.5(VWF):c.1728G>T (p.Met576Ile) rs150146744 0.00155
NM_000552.5(VWF):c.1753G>A (p.Ala585Thr) rs141777100 0.00049
NM_000552.5(VWF):c.1330G>A (p.Val444Ile) rs149116506 0.00026
NM_000552.5(VWF):c.1519A>G (p.Arg507Gly) rs189409574 0.00019
NM_000552.5(VWF):c.658-3C>A rs377196768 0.00007
NM_000552.5(VWF):c.5287C>T (p.Arg1763Trp) rs763126601 0.00004
NM_000552.5(VWF):c.4706G>A (p.Arg1569His) rs769025840 0.00003
NM_000552.5(VWF):c.4000C>T (p.Arg1334Trp) rs746810319 0.00002
NM_000552.5(VWF):c.3613C>T (p.Arg1205Cys) rs373787920 0.00001
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del) rs368366214
NM_000552.5(VWF):c.4121G>A (p.Arg1374His) rs61750072
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu) rs61750100
NM_000552.5(VWF):c.4571T>G (p.Val1524Gly) rs2136412301
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000552.5(VWF):c.5768T>C (p.Leu1923Pro)
NM_000552.5(VWF):c.5778G>A (p.Ser1926=)
NM_000552.5(VWF):c.5814G>C (p.Glu1938Asp)
NM_000552.5(VWF):c.6578G>A (p.Trp2193Ter)
NM_000552.5(VWF):c.7057G>A (p.Glu2353Lys)
NM_000552.5(VWF):c.7483del (p.Leu2495fs) rs1229452874
NM_000552.5(VWF):c.8440T>G (p.Ter2814Gly)

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