ClinVar Miner

List of variants in gene combination BBS1, ZDHHC24 reported as benign for Bardet-Biedl syndrome

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Total variants: 8
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NM_024649.5(BBS1):c.1020C>G (p.Ser340=) rs35209408
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) rs201872547
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) rs77298332
NM_024649.5(BBS1):c.1413C>T (p.Leu471=) rs3816492
NM_024649.5(BBS1):c.1695+10G>A rs200276861
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) rs150553044
NM_024649.5(BBS1):c.724-8G>C rs10896125
NM_024649.5(BBS1):c.831-5C>T rs56177555

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