List of variants in gene BBS12 reported by Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)	rs138011813	0.00020
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro)	rs767068756	0.00005
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)	rs121918327	0.00001
NM_152618.3(BBS12):c.1574G>A (p.Arg525His)	rs776730549	0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)	rs752202089	0.00001
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser)	rs565073445	0.00001
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer)	rs587777803
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs)	rs1560708847
NM_152618.3(BBS12):c.670dup (p.Thr224fs)	rs1339432710

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