ClinVar Miner

List of variants in gene BBS9 reported as uncertain significance for Bardet-Biedl syndrome 9

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Total variants: 56
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HGVS dbSNP
NM_198428.3(BBS9):c.*12T>C
NM_198428.3(BBS9):c.*29A>G rs373446119
NM_198428.3(BBS9):c.*323A>G
NM_198428.3(BBS9):c.*336A>G rs578208457
NM_198428.3(BBS9):c.*337C>T
NM_198428.3(BBS9):c.*406A>G
NM_198428.3(BBS9):c.*585C>T
NM_198428.3(BBS9):c.*589G>A rs548920550
NM_198428.3(BBS9):c.*729C>T
NM_198428.3(BBS9):c.*801G>A
NM_198428.3(BBS9):c.-163G>C rs886062281
NM_198428.3(BBS9):c.-206T>G
NM_198428.3(BBS9):c.-228T>G rs771734972
NM_198428.3(BBS9):c.-271G>A rs886062280
NM_198428.3(BBS9):c.-397G>A rs561901329
NM_198428.3(BBS9):c.-408T>G rs886062279
NM_198428.3(BBS9):c.-447A>C rs886062278
NM_198428.3(BBS9):c.-456G>A rs886062277
NM_198428.3(BBS9):c.1052A>T (p.Asp351Val)
NM_198428.3(BBS9):c.1130A>G (p.Asn377Ser) rs886062285
NM_198428.3(BBS9):c.1210A>G (p.Met404Val)
NM_198428.3(BBS9):c.1236C>T (p.Asn412=)
NM_198428.3(BBS9):c.1329+5T>C
NM_198428.3(BBS9):c.1535C>T (p.Thr512Ile) rs886062286
NM_198428.3(BBS9):c.1537+14C>T
NM_198428.3(BBS9):c.1538-9G>T rs770317221
NM_198428.3(BBS9):c.1553-11T>C rs756802547
NM_198428.3(BBS9):c.1611A>C (p.Pro537=)
NM_198428.3(BBS9):c.1645A>G (p.Thr549Ala)
NM_198428.3(BBS9):c.1760G>A (p.Arg587Gln)
NM_198428.3(BBS9):c.1812del (p.Glu604fs) rs1229015450
NM_198428.3(BBS9):c.1870_1872del (p.Phe624del)
NM_198428.3(BBS9):c.1897G>A (p.Ala633Thr)
NM_198428.3(BBS9):c.1910C>T (p.Ser637Leu) rs771777721
NM_198428.3(BBS9):c.1923C>A (p.Pro641=) rs886062287
NM_198428.3(BBS9):c.195C>T (p.Ala65=) rs373063776
NM_198428.3(BBS9):c.2032C>T (p.Arg678Cys)
NM_198428.3(BBS9):c.2044G>A (p.Ala682Thr)
NM_198428.3(BBS9):c.2070C>G (p.Ala690=) rs200515072
NM_198428.3(BBS9):c.2211G>A (p.Leu737=)
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val) rs61764068
NM_198428.3(BBS9):c.2273C>T (p.Pro758Leu)
NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly) rs149668719
NM_198428.3(BBS9):c.2404C>T (p.Pro802Ser) rs886062288
NM_198428.3(BBS9):c.2460C>T (p.Ser820=) rs142563811
NM_198428.3(BBS9):c.2488G>A (p.Asp830Asn) rs368704638
NM_198428.3(BBS9):c.2509A>G (p.Met837Val)
NM_198428.3(BBS9):c.2538C>T (p.Ile846=) rs376692708
NM_198428.3(BBS9):c.2593A>G (p.Thr865Ala) rs143963391
NM_198428.3(BBS9):c.2646C>A (p.Leu882=) rs61753527
NM_198428.3(BBS9):c.272A>T (p.Glu91Val) rs886062283
NM_198428.3(BBS9):c.385C>T (p.His129Tyr) rs886062284
NM_198428.3(BBS9):c.715C>T (p.Leu239=)
NM_198428.3(BBS9):c.736C>T (p.Leu246Phe) rs140821420
NM_198428.3(BBS9):c.938A>G (p.His313Arg)
NM_198428.3(BBS9):c.974A>G (p.Gln325Arg)

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