List of variants in gene BBS2 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_031885.5(BBS2):c.1110T>C (p.Ala370=)	rs148990271	0.00389
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)	rs117033008	0.00250
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)	rs121908177	0.00010
NM_031885.5(BBS2):c.870C>T (p.Ala290=)	rs750516217	0.00009
NM_031885.5(BBS2):c.1134A>G (p.Pro378=)	rs185178790	0.00001
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys)	rs750506474	0.00001
NM_031885.5(BBS2):c.720G>A (p.Ser240=)	rs758715963	0.00001
NC_000016.10:g.56570676C>T
NC_000016.10:g.56570686G>T
NM_031885.5(BBS2):c.1291C>T (p.His431Tyr)
NM_031885.5(BBS2):c.145A>G (p.Asn49Asp)
NM_031885.5(BBS2):c.1528-126G>C
NM_031885.5(BBS2):c.413T>G (p.Ile138Ser)	rs1386789664
NM_031885.5(BBS2):c.534+2dup	rs1964556992
NM_031885.5(BBS2):c.861T>C (p.Ser287=)
NM_031885.5(BBS2):c.950A>C (p.Tyr317Ser)

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