ClinVar Miner

List of variants in gene VWF reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.5049A>C (p.Ala1683=) rs79275181 0.01607
NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp) rs61750625 0.00217
NM_000552.5(VWF):c.8036A>G (p.Asn2679Ser) rs151129435 0.00057
NM_000552.5(VWF):c.1330G>A (p.Val444Ile) rs149116506 0.00026
NM_000552.5(VWF):c.5406C>T (p.Asp1802=) rs565224789 0.00019
NM_000552.5(VWF):c.2770C>T (p.Arg924Trp) rs61748491 0.00001
NM_000552.5(VWF):c.5369C>T (p.Pro1790Leu) rs551649729 0.00001
NM_000552.5(VWF):c.1588A>G (p.Asn530Asp) rs1555198437
NM_000552.5(VWF):c.4926T>C (p.Ile1642=) rs200147615
NM_000552.5(VWF):c.4927G>A (p.Gly1643Ser) rs886042266
NM_000552.5(VWF):c.4944T>C (p.Pro1648=) rs201825372
NM_000552.5(VWF):c.5044C>T (p.Pro1682Ser) rs794727461
NM_000552.5(VWF):c.5338T>C (p.Tyr1780His) rs372002214
NM_000552.5(VWF):c.5379A>G (p.Ser1793=) rs794727545
NM_000552.5(VWF):c.7140G>T (p.Leu2380Phe) rs1335944944

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