ClinVar Miner

List of variants in gene VWA3B studied for cerebellar disorder

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_144992.5(VWA3B):c.3734G>A (p.Arg1245Lys) rs7587534 0.96955
NM_144992.5(VWA3B):c.2029C>G (p.Leu677Val) rs7601049 0.61386
NM_144992.5(VWA3B):c.2653G>A (p.Val885Met) rs11889349 0.56331
NM_144992.5(VWA3B):c.544G>A (p.Val182Ile) rs367870902 0.00053
NM_144992.5(VWA3B):c.1865A>C (p.Lys622Thr) rs876657414 0.00001
NM_144992.5(VWA3B):c.2243A>G (p.Asn748Ser) rs1037456370 0.00001
NM_144992.5(VWA3B):c.1191T>G (p.Tyr397Ter) rs546662496
NM_144992.5(VWA3B):c.2843+36dup rs113487988
NM_144992.5(VWA3B):c.2951A>C (p.Glu984Ala)
NM_144992.5(VWA3B):c.3068C>G (p.Pro1023Arg) rs779799210

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