ClinVar Miner

List of variants in gene CFAP418, LOC130000784 studied for Bardet-biedl syndrome 21

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_177965.4(CFAP418):c.130C>T (p.Gln44Ter) rs751922029 0.00001

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