List of variants reported as benign for Bardet-Biedl syndrome 16 by Invitae

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_006642.5(SDCCAG8):c.1725G>A (p.Glu575=)	rs10927011	0.41204
NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp)	rs2275155	0.25552
NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=)	rs976529	0.02103
NM_006642.5(SDCCAG8):c.986C>T (p.Thr329Met)	rs35859404	0.00342
NM_006642.5(SDCCAG8):c.1761G>A (p.Leu587=)	rs149837444	0.00190
NM_006642.5(SDCCAG8):c.929+18C>T	rs200895248	0.00164
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=)	rs145877279	0.00120
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=)	rs148818431	0.00069
NM_006642.5(SDCCAG8):c.348C>T (p.His116=)	rs143226730	0.00051
NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=)	rs191821211	0.00038
NM_006642.5(SDCCAG8):c.798T>C (p.His266=)	rs74586093	0.00036
NM_006642.5(SDCCAG8):c.1094G>C (p.Arg365Thr)	rs115098969
NM_006642.5(SDCCAG8):c.1357-13dup
NM_006642.5(SDCCAG8):c.2113-5del
NM_006642.5(SDCCAG8):c.307-8dup

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