ClinVar Miner

List of variants in gene BBS2 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

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Gene type:
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Total variants: 52
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HGVS dbSNP
NC_000016.10:g.56520025G>A
NC_000016.10:g.56520070C>T
NM_031885.3(BBS2):c.-177C>T rs567188429
NM_031885.3(BBS2):c.-178C>T rs548915387
NM_031885.3(BBS2):c.-190G>C rs555974619
NM_031885.4(BBS2):c.*91C>T rs148188874
NM_031885.4(BBS2):c.-133C>T rs886052152
NM_031885.4(BBS2):c.-146G>A rs886052153
NM_031885.4(BBS2):c.-147G>T rs886052154
NM_031885.4(BBS2):c.-161G>A rs886052155
NM_031885.4(BBS2):c.-22C>T rs528287127
NM_031885.4(BBS2):c.-67C>G rs886052151
NM_031885.4(BBS2):c.1104C>T (p.Asn368=) rs141731677
NM_031885.4(BBS2):c.1118A>G (p.His373Arg) rs886052146
NM_031885.4(BBS2):c.111G>A (p.Thr37=) rs191867233
NM_031885.4(BBS2):c.118-16_118-13del rs758674101
NM_031885.4(BBS2):c.1207C>T (p.Arg403Cys) rs766873519
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.1422G>A (p.Ser474=) rs117033008
NM_031885.4(BBS2):c.1486A>G (p.Ile496Val) rs549070573
NM_031885.4(BBS2):c.1527+12G>A rs376715521
NM_031885.4(BBS2):c.1662C>G (p.Ile554Met) rs774112668
NM_031885.4(BBS2):c.1797+12C>T rs370960689
NM_031885.4(BBS2):c.1894C>T (p.Arg632Cys) rs200021475
NM_031885.4(BBS2):c.1902G>T (p.Met634Ile) rs886052145
NM_031885.4(BBS2):c.1910+9T>G rs751604858
NM_031885.4(BBS2):c.2088T>C (p.Thr696=) rs886052144
NM_031885.4(BBS2):c.266A>G (p.Tyr89Cys) rs560910758
NM_031885.4(BBS2):c.534+7G>C rs886052149
NM_031885.4(BBS2):c.58G>A (p.Ala20Thr) rs886052150
NM_031885.4(BBS2):c.634A>G (p.Met212Val) rs886052148
NM_031885.4(BBS2):c.642C>T (p.Gly214=) rs141563594
NM_031885.4(BBS2):c.744T>C (p.His248=) rs186893286
NM_031885.4(BBS2):c.766G>A (p.Gly256Arg) rs886052147
NM_031885.4(BBS2):c.78G>A (p.Gly26=) rs759629466
NM_031885.4(BBS2):c.837C>T (p.Val279=) rs748579225
NM_031885.4(BBS2):c.86C>T (p.Pro29Leu) rs771211831
NM_031885.5(BBS2):c.*34A>G
NM_031885.5(BBS2):c.-118C>T
NM_031885.5(BBS2):c.1226-11C>T
NM_031885.5(BBS2):c.1397+7C>A
NM_031885.5(BBS2):c.152A>G (p.His51Arg)
NM_031885.5(BBS2):c.1697A>G (p.Asp566Gly)
NM_031885.5(BBS2):c.1895G>A (p.Arg632His)
NM_031885.5(BBS2):c.1934T>C (p.Met645Thr)
NM_031885.5(BBS2):c.247T>C (p.Leu83=)
NM_031885.5(BBS2):c.327G>A rs770497817
NM_031885.5(BBS2):c.408G>A (p.Ala136=)
NM_031885.5(BBS2):c.603A>C (p.Thr201=)
NM_031885.5(BBS2):c.725A>G (p.Asn242Ser)

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