ClinVar Miner

List of variants reported as benign for Bardet-Biedl syndrome 13 by Illumina Laboratory Services, Illumina

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_017777.4(MKS1):c.*75C>T rs35184412 0.08455
NM_017777.4(MKS1):c.*414C>T rs2302313 0.08215
NM_017777.4(MKS1):c.1671G>C (p.Leu557=) rs11548967 0.06374
NM_017777.4(MKS1):c.*472C>G rs17174788 0.04345
NM_017777.4(MKS1):c.1273+11G>A rs16942826 0.01295
NM_017777.4(MKS1):c.-18C>G rs116514023 0.01231
NM_017777.4(MKS1):c.1436G>A (p.Arg479His) rs111315726 0.00476

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