List of variants in gene BBS2 studied for Bardet-Biedl syndrome 1

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_031885.5(BBS2):c.367A>G (p.Ile123Val)	rs11373	0.20545
NM_031885.5(BBS2):c.1659+3A>G	rs6499838	0.03415
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val)	rs16957538	0.02076
NM_031885.5(BBS2):c.612+12C>A	rs77019529	0.01713
NM_031885.5(BBS2):c.1413A>C (p.Val471=)	rs35294865	0.01415
NM_031885.5(BBS2):c.805-20A>G	rs41280892	0.00423
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)	rs117033008	0.00250
NM_031885.5(BBS2):c.1528G>T (p.Val510Phe)

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