List of variants in gene BBS9 reported as uncertain significance for not provided

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: 35

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HGVS	dbSNP	gnomAD frequency
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val)	rs138072724	0.00599
NM_198428.3(BBS9):c.2336T>A (p.Leu779Gln)	rs142434516	0.00185
NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn)	rs149362446	0.00081
NM_198428.3(BBS9):c.2214C>T (p.Ile738=)	rs148536971	0.00071
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val)	rs61764068	0.00066
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe)	rs61753526	0.00053
NM_198428.3(BBS9):c.1918A>G (p.Ile640Val)	rs144112103	0.00034
NM_198428.3(BBS9):c.1559C>T (p.Pro520Leu)	rs769669385	0.00021
NM_198428.3(BBS9):c.771A>G (p.Ala257=)	rs145007686	0.00021
NM_198428.3(BBS9):c.736C>T (p.Leu246Phe)	rs140821420	0.00016
NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly)	rs149668719	0.00013
NM_198428.3(BBS9):c.928A>G (p.Asn310Asp)	rs369647403	0.00011
NM_198428.3(BBS9):c.436G>A (p.Val146Ile)	rs372412756	0.00010
NM_198428.3(BBS9):c.1768G>A (p.Val590Ile)	rs143016114	0.00008
NM_198428.3(BBS9):c.2403A>G (p.Ile801Met)	rs137993290	0.00006
NM_198428.3(BBS9):c.1889A>G (p.Lys630Arg)	rs561404900	0.00004
NM_198428.3(BBS9):c.2632G>T (p.Glu878Ter)	rs150826095	0.00004
NM_198428.3(BBS9):c.2273C>T (p.Pro758Leu)	rs757754301	0.00003
NM_198428.3(BBS9):c.2488G>A (p.Asp830Asn)	rs368704638	0.00003
NM_198428.3(BBS9):c.2059A>G (p.Lys687Glu)	rs760800602	0.00002
NM_198428.3(BBS9):c.1352T>C (p.Ile451Thr)	rs773192233	0.00001
NM_198428.3(BBS9):c.761A>G (p.Asn254Ser)	rs1279852557	0.00001
GRCh37/hg19 7p14.3(chr7:33251174-33415723)x1
GRCh37/hg19 7p14.3(chr7:33304341-33457501)x1
GRCh37/hg19 7p14.3(chr7:33327326-33587544)x1
GRCh37/hg19 7p14.3(chr7:33450970-33586514)x1
GRCh37/hg19 7p14.3(chr7:33489068-33722022)x3
GRCh37/hg19 7p14.3(chr7:33586413-33813723)x3
NM_198428.3(BBS9):c.1308T>C (p.Leu436=)	rs886043248
NM_198428.3(BBS9):c.158G>T (p.Ser53Ile)	rs2128108169
NM_198428.3(BBS9):c.2072C>G (p.Pro691Arg)	rs759571062
NM_198428.3(BBS9):c.329-7dup	rs753552530
NM_198428.3(BBS9):c.558C>G (p.Tyr186Ter)	rs1562888583
NM_198428.3(BBS9):c.801_803del (p.Phe269del)	rs780367770
Single allele

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