ClinVar Miner

List of variants studied for von Willebrand disease 2 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (7):
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ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln) rs2229446 0.06069
NM_000552.5(VWF):c.3795G>A (p.Pro1265=) rs2228319 0.03767
NM_000552.5(VWF):c.2451T>A (p.His817Gln) rs57950734 0.03591
NM_000552.5(VWF):c.3379+13G>A rs2885752 0.01966
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met) rs61751302 0.00352
NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp) rs61750625 0.00217
NM_000552.5(VWF):c.1817G>A (p.Arg606Gln) rs200586078 0.00127
NM_000552.5(VWF):c.2739A>C (p.Gly913=) rs35191786 0.00102
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) rs141649383 0.00074
NM_000552.5(VWF):c.8036A>G (p.Asn2679Ser) rs151129435 0.00057
NM_000552.5(VWF):c.7619T>C (p.Val2540Ala) rs150778949 0.00038
NM_000552.5(VWF):c.1446C>G (p.Ile482Met) rs569669757 0.00023
NM_000552.5(VWF):c.6016G>A (p.Glu2006Lys) rs140229844 0.00023
NM_000552.5(VWF):c.3365C>T (p.Thr1122Met) rs183119284 0.00011
NM_000552.5(VWF):c.7135C>T (p.Arg2379Cys) rs61751283 0.00006
NM_000552.5(VWF):c.1205G>A (p.Arg402Lys) rs779082753 0.00005
NM_000552.5(VWF):c.3747T>C (p.Asp1249=) rs200893595 0.00003
NM_000552.5(VWF):c.646G>A (p.Glu216Lys) rs767837153 0.00003
NM_000552.5(VWF):c.1679A>G (p.Gln560Arg) rs754526458 0.00001
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.3955del (p.Val1319fs)
NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe) rs61750083
NM_000552.5(VWF):c.5201A>T (p.Gln1734Leu)
NM_000552.5(VWF):c.5673C>G (p.Asp1891Glu) rs369450995
NM_000552.5(VWF):c.6188C>T (p.Pro2063Leu)
NM_000552.5(VWF):c.7579C>T (p.Pro2527Ser)
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000552.5(VWF):c.799G>A (p.Ala267Thr)

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