List of variants in gene BBS12 reported by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr)	rs7665271	0.03441
NM_152618.3(BBS12):c.1209G>A (p.Val403=)	rs17006092	0.03229
NM_152618.3(BBS12):c.1062G>C (p.Val354=)	rs34296401	0.03153
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys)	rs17006082	0.00860
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)	rs138036823	0.00569

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