List of variants in gene BBS10 reported as uncertain significance by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_024685.4(BBS10):c.765G>A (p.Met255Ile)	rs139658279	0.00072
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu)	rs138434761	0.00058
NM_024685.4(BBS10):c.372T>A (p.Ser124=)	rs143366878	0.00014
NM_024685.4(BBS10):c.1028G>A (p.Arg343Gln)	rs201335653	0.00008
NM_024685.4(BBS10):c.2144A>G (p.His715Arg)	rs769179905	0.00004
NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp)	rs375746803	0.00003
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)	rs575957641	0.00002
NM_024685.4(BBS10):c.1088C>T (p.Pro363Leu)	rs938066133	0.00001
NM_024685.4(BBS10):c.483A>G (p.Lys161=)	rs748732850	0.00001
NM_024685.4(BBS10):c.986C>T (p.Ser329Leu)	rs1000990130	0.00001
NM_024685.4(BBS10):c.2123_2126delinsGGA (p.Lys708fs)	rs1555202541
NM_024685.4(BBS10):c.2T>C (p.Met1Thr)	rs1382481529

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