List of variants in gene BBS12 reported as benign for Bardet-Biedl syndrome 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln)	rs309370	0.42071
NM_152618.3(BBS12):c.1410C>T (p.Cys470=)	rs13135445	0.19015
NM_152618.3(BBS12):c.1380G>C (p.Val460=)	rs13135766	0.16051
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn)	rs13135778	0.15902
NM_152618.3(BBS12):c.1872A>G (p.Gln624=)	rs13102440	0.15807
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.1847G>A (p.Ser616Asn)	rs28507107	0.02805
NM_152618.3(BBS12):c.1381A>C (p.Asn461His)	rs10027479	0.02523
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys)	rs17006082	0.00860
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)	rs138036823	0.00577
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys)	rs35690634	0.00435

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