ClinVar Miner

List of variants in gene BBS2 reported as likely benign for Bardet-Biedl syndrome

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Gene type:
ClinVar version:
Total variants: 153
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HGVS dbSNP
NM_031885.3(BBS2):c.-239G>A rs2303284
NM_031885.4(BBS2):c.1104C>T (p.Asn368=) rs141731677
NM_031885.4(BBS2):c.111G>A (p.Thr37=) rs191867233
NM_031885.4(BBS2):c.1152C>T (p.His384=) rs774493134
NM_031885.4(BBS2):c.1161C>T (p.Leu387=) rs71387119
NM_031885.4(BBS2):c.1215C>T (p.Ser405=) rs768053787
NM_031885.4(BBS2):c.1225+10T>C rs1597015665
NM_031885.4(BBS2):c.126T>G (p.Ile42Met) rs139945733
NM_031885.4(BBS2):c.1284C>T (p.His428=)
NM_031885.4(BBS2):c.1380C>T (p.Phe460=) rs141046144
NM_031885.4(BBS2):c.1437T>C (p.Pro479=) rs747415803
NM_031885.4(BBS2):c.1470C>T (p.Asp490=) rs370024579
NM_031885.4(BBS2):c.1523A>C (p.Gln508Pro) rs115328064
NM_031885.4(BBS2):c.1528-7T>C rs1597013039
NM_031885.4(BBS2):c.1608A>G (p.Thr536=) rs778892001
NM_031885.4(BBS2):c.1777T>C (p.Leu593=) rs767778599
NM_031885.4(BBS2):c.1797+12C>T rs370960689
NM_031885.4(BBS2):c.1806A>G (p.Glu602=) rs1597011884
NM_031885.4(BBS2):c.2088T>C (p.Thr696=) rs886052144
NM_031885.4(BBS2):c.285G>A (p.Gly95=) rs752531652
NM_031885.4(BBS2):c.30G>A (p.Leu10=) rs1258834563
NM_031885.4(BBS2):c.345+10A>G rs770249850
NM_031885.4(BBS2):c.382T>C (p.Leu128=) rs374060552
NM_031885.4(BBS2):c.472-10T>C rs138714256
NM_031885.4(BBS2):c.525A>G (p.Gly175=) rs34191306
NM_031885.4(BBS2):c.537T>A (p.Leu179=) rs1450648224
NM_031885.4(BBS2):c.627T>C (p.Leu209=) rs752010652
NM_031885.4(BBS2):c.783A>C (p.Ile261=) rs183982328
NM_031885.4(BBS2):c.819T>C (p.Ser273=) rs550992948
NM_031885.4(BBS2):c.837C>T (p.Val279=) rs748579225
NM_031885.4(BBS2):c.870C>T (p.Ala290=) rs750516217
NM_031885.4(BBS2):c.984C>T (p.Leu328=) rs1285508370
NM_031885.4(BBS2):c.995G>A (p.Ser332Asn) rs199655331
NM_031885.5(BBS2):c.1011G>A (p.Leu337=)
NM_031885.5(BBS2):c.1080+7G>A
NM_031885.5(BBS2):c.1083T>A (p.Ala361=)
NM_031885.5(BBS2):c.1155C>G (p.Thr385=)
NM_031885.5(BBS2):c.1158G>A (p.Thr386=)
NM_031885.5(BBS2):c.1161C>G (p.Leu387=)
NM_031885.5(BBS2):c.117+10C>G
NM_031885.5(BBS2):c.117+10C>T
NM_031885.5(BBS2):c.117+7G>A
NM_031885.5(BBS2):c.1209C>T (p.Arg403=)
NM_031885.5(BBS2):c.1226-5T>C
NM_031885.5(BBS2):c.1227C>T (p.Asp409=)
NM_031885.5(BBS2):c.1233C>T (p.Ile411=)
NM_031885.5(BBS2):c.1257A>G (p.Ala419=)
NM_031885.5(BBS2):c.1272A>C (p.Thr424=)
NM_031885.5(BBS2):c.1296C>T (p.Pro432=)
NM_031885.5(BBS2):c.1314C>T (p.Ser438=)
NM_031885.5(BBS2):c.1326C>T (p.Cys442=)
NM_031885.5(BBS2):c.1397+7C>A
NM_031885.5(BBS2):c.1410T>C (p.His470=)
NM_031885.5(BBS2):c.1413A>G (p.Val471=)
NM_031885.5(BBS2):c.1422G>T (p.Ser474=)
NM_031885.5(BBS2):c.1428A>G (p.Arg476=)
NM_031885.5(BBS2):c.1437T>G (p.Pro479=)
NM_031885.5(BBS2):c.1455G>A (p.Ala485=)
NM_031885.5(BBS2):c.1456C>T (p.Leu486=)
NM_031885.5(BBS2):c.1458G>A (p.Leu486=)
NM_031885.5(BBS2):c.1494T>C (p.Tyr498=)
NM_031885.5(BBS2):c.1500C>T (p.Asn500=)
NM_031885.5(BBS2):c.1528-4C>T
NM_031885.5(BBS2):c.1528-9A>G
NM_031885.5(BBS2):c.1530T>G (p.Val510=)
NM_031885.5(BBS2):c.1542C>T (p.Leu514=)
NM_031885.5(BBS2):c.1551C>T (p.Asn517=)
NM_031885.5(BBS2):c.1554T>C (p.Phe518=)
NM_031885.5(BBS2):c.1557G>A (p.Leu519=)
NM_031885.5(BBS2):c.1558T>C (p.Leu520=)
NM_031885.5(BBS2):c.156C>T (p.Val52=)
NM_031885.5(BBS2):c.1623C>T (p.Gly541=)
NM_031885.5(BBS2):c.1629C>T (p.His543=)
NM_031885.5(BBS2):c.162A>G (p.Ala54=)
NM_031885.5(BBS2):c.1632G>T (p.Leu544=)
NM_031885.5(BBS2):c.1659+18G>A
NM_031885.5(BBS2):c.1660-10C>T
NM_031885.5(BBS2):c.1686T>C (p.Asp562=)
NM_031885.5(BBS2):c.1728T>C (p.Ala576=)
NM_031885.5(BBS2):c.1797+7del
NM_031885.5(BBS2):c.1798-10T>C
NM_031885.5(BBS2):c.1818G>A (p.Val606=)
NM_031885.5(BBS2):c.1851T>C (p.His617=)
NM_031885.5(BBS2):c.1873C>T (p.Leu625=)
NM_031885.5(BBS2):c.1878C>T (p.Val626=)
NM_031885.5(BBS2):c.1911-10A>T
NM_031885.5(BBS2):c.1932T>C (p.Tyr644=)
NM_031885.5(BBS2):c.1944T>C (p.Tyr648=)
NM_031885.5(BBS2):c.1950T>C (p.Leu650=)
NM_031885.5(BBS2):c.1989C>T (p.Asn663=)
NM_031885.5(BBS2):c.2016C>G (p.Leu672=)
NM_031885.5(BBS2):c.2028T>C (p.Asn676=)
NM_031885.5(BBS2):c.2046A>C (p.Ala682=)
NM_031885.5(BBS2):c.2059+12_2059+13del
NM_031885.5(BBS2):c.2059+7C>G
NM_031885.5(BBS2):c.2060-10T>C
NM_031885.5(BBS2):c.2060-4G>A
NM_031885.5(BBS2):c.2060-5T>C
NM_031885.5(BBS2):c.2060-8T>C
NM_031885.5(BBS2):c.2060-8_2060-5del
NM_031885.5(BBS2):c.2060-9C>T
NM_031885.5(BBS2):c.2060-9_2060-7del
NM_031885.5(BBS2):c.2106T>C (p.Ile702=)
NM_031885.5(BBS2):c.2128C>T (p.Leu710=)
NM_031885.5(BBS2):c.2157T>G (p.Ala719=)
NM_031885.5(BBS2):c.2160T>C (p.Ser720=)
NM_031885.5(BBS2):c.297T>C (p.Asn99=)
NM_031885.5(BBS2):c.345+12C>T
NM_031885.5(BBS2):c.366A>C (p.Ala122=)
NM_031885.5(BBS2):c.408G>A (p.Ala136=)
NM_031885.5(BBS2):c.429T>C (p.Ala143=)
NM_031885.5(BBS2):c.42C>T (p.Ile14=)
NM_031885.5(BBS2):c.432G>T (p.Leu144=)
NM_031885.5(BBS2):c.441C>T (p.Phe147=)
NM_031885.5(BBS2):c.453A>G (p.Gly151=)
NM_031885.5(BBS2):c.471+10A>C
NM_031885.5(BBS2):c.471+17A>G
NM_031885.5(BBS2):c.483C>T (p.Asp161=)
NM_031885.5(BBS2):c.501C>G (p.Ala167=)
NM_031885.5(BBS2):c.516T>C (p.Asp172=)
NM_031885.5(BBS2):c.531A>G (p.Lys177=)
NM_031885.5(BBS2):c.534+10G>A
NM_031885.5(BBS2):c.534+7G>T
NM_031885.5(BBS2):c.535-6C>T
NM_031885.5(BBS2):c.535-6del
NM_031885.5(BBS2):c.535-7C>T
NM_031885.5(BBS2):c.535-8C>T
NM_031885.5(BBS2):c.535-9C>T
NM_031885.5(BBS2):c.558T>C (p.Phe186=)
NM_031885.5(BBS2):c.573T>C (p.Phe191=)
NM_031885.5(BBS2):c.603A>C (p.Thr201=)
NM_031885.5(BBS2):c.612+10T>C
NM_031885.5(BBS2):c.657T>C (p.Tyr219=)
NM_031885.5(BBS2):c.66G>T (p.Gly22=)
NM_031885.5(BBS2):c.675A>C (p.Thr225=)
NM_031885.5(BBS2):c.684T>A (p.Val228=)
NM_031885.5(BBS2):c.718-4T>G
NM_031885.5(BBS2):c.718-9C>A
NM_031885.5(BBS2):c.720G>A (p.Ser240=)
NM_031885.5(BBS2):c.726T>C (p.Asn242=)
NM_031885.5(BBS2):c.75C>T (p.Asp25=)
NM_031885.5(BBS2):c.840C>T (p.Ile280=)
NM_031885.5(BBS2):c.873T>A (p.Gly291=)
NM_031885.5(BBS2):c.882G>A (p.Glu294=)
NM_031885.5(BBS2):c.888T>C (p.Asp296=)
NM_031885.5(BBS2):c.912G>A (p.Gln304=)
NM_031885.5(BBS2):c.91C>T (p.Leu31=)
NM_031885.5(BBS2):c.941-6G>A
NM_031885.5(BBS2):c.941-8C>G
NM_031885.5(BBS2):c.941-8C>T
NM_031885.5(BBS2):c.975G>A (p.Arg325=)
NM_031885.5(BBS2):c.993C>T (p.Thr331=)
NM_031885.5(BBS2):c.999A>T (p.Ala333=)

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