ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 by Fulgent Genetics,Fulgent Genetics

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Total variants: 4
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HGVS dbSNP
NM_001165927.1(MKS1):c.1513C>T (p.Arg505Cys) rs775558298
NM_001165927.1(MKS1):c.338G>A (p.Arg113Gln) rs202112856
NM_001165927.1(MKS1):c.514G>A (p.Val172Ile) rs200185068
NM_001165927.1(MKS1):c.88C>T (p.His30Tyr) rs199832333

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