ClinVar Miner

List of variants in gene WDPCP studied for Bardet-Biedl syndrome 1

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_015910.7(WDPCP):c.1915+13G>A	rs992214	0.63738
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser)	rs61734468	0.00905
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln)	rs544657165	0.00001

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