ClinVar Miner

List of variants in gene BBS2 reported as uncertain significance for Bardet-Biedl syndrome

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
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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_031885.3(BBS2):c.1528_1539del12 (p.Val510_Trp513del) rs1555521575
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.1046T>G (p.Leu349Trp) rs752280639
NM_031885.4(BBS2):c.109A>G (p.Thr37Ala) rs1284353332
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.118G>T (p.Val40Phe) rs886043059
NM_031885.4(BBS2):c.1207C>T (p.Arg403Cys) rs766873519
NM_031885.4(BBS2):c.126T>G (p.Ile42Met)
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.1523A>C (p.Gln508Pro) rs115328064
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.1885G>A (p.Glu629Lys) rs746505864
NM_031885.4(BBS2):c.1891G>A (p.Ala631Thr) rs771822557
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.1928G>A (p.Arg643His) rs532361142
NM_031885.4(BBS2):c.2043_2058dup (p.Val687fs) rs1555520212
NM_031885.4(BBS2):c.2088T>C (p.Thr696=) rs886052144
NM_031885.4(BBS2):c.2143C>T (p.Arg715Ter) rs1555520107
NM_031885.4(BBS2):c.2166G>C (p.Ter722Tyr) rs1555520101
NM_031885.4(BBS2):c.235A>C (p.Thr79Pro) rs1387025330
NM_031885.4(BBS2):c.241G>T (p.Gly81Cys) rs750506474
NM_031885.4(BBS2):c.266A>G (p.Tyr89Cys)
NM_031885.4(BBS2):c.327G>A (p.Ser109=) rs770497817
NM_031885.4(BBS2):c.334T>C (p.Phe112Leu) rs772864503
NM_031885.4(BBS2):c.345+5G>A rs1430976492
NM_031885.4(BBS2):c.358G>A (p.Ala120Thr) rs148808295
NM_031885.4(BBS2):c.365C>T (p.Ala122Val) rs17856449
NM_031885.4(BBS2):c.401C>G (p.Pro134Arg) rs376306240
NM_031885.4(BBS2):c.471+3_471+4delinsCA rs1567582876
NM_031885.4(BBS2):c.471G>A (p.Thr157=) rs749983428
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=)
NM_031885.4(BBS2):c.691A>G (p.Lys231Glu) rs754487754
NM_031885.4(BBS2):c.730_732del (p.Ala244del) rs1171314440
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_031885.4(BBS2):c.943C>T (p.Arg315Trp) rs121908178
NM_031885.4(BBS2):c.944G>A (p.Arg315Gln) rs544773389
NM_031885.4(BBS2):c.950A>G (p.Tyr317Cys)
NM_031885.4(BBS2):c.986T>C (p.Met329Thr) rs201146063
NM_031885.4(BBS2):c.98C>A (p.Ala33Asp) rs797045155
NM_031885.5(BBS2):c.*34A>G
NM_031885.5(BBS2):c.-118C>T
NM_031885.5(BBS2):c.112G>A (p.Gly38Ser)
NM_031885.5(BBS2):c.1220C>T (p.Ser407Phe)
NM_031885.5(BBS2):c.1226-11C>T
NM_031885.5(BBS2):c.1297A>G (p.Ser433Gly)
NM_031885.5(BBS2):c.1397+7C>A
NM_031885.5(BBS2):c.1454C>T (p.Ala485Val)
NM_031885.5(BBS2):c.1469A>G (p.Asp490Gly)
NM_031885.5(BBS2):c.152A>G (p.His51Arg)
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser)
NM_031885.5(BBS2):c.1555C>G (p.Leu519Val)
NM_031885.5(BBS2):c.159T>G (p.Ser53Arg)
NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys)
NM_031885.5(BBS2):c.1666A>G (p.Ile556Val)
NM_031885.5(BBS2):c.1697A>G (p.Asp566Gly)
NM_031885.5(BBS2):c.1759C>T (p.Pro587Ser)
NM_031885.5(BBS2):c.184C>G (p.Leu62Val)
NM_031885.5(BBS2):c.1895G>A (p.Arg632His)
NM_031885.5(BBS2):c.1927C>T (p.Arg643Cys)
NM_031885.5(BBS2):c.1934T>C (p.Met645Thr)
NM_031885.5(BBS2):c.1982G>A (p.Arg661His)
NM_031885.5(BBS2):c.247T>C (p.Leu83=)
NM_031885.5(BBS2):c.408G>A (p.Ala136=)
NM_031885.5(BBS2):c.581A>G (p.Asp194Gly)
NM_031885.5(BBS2):c.603A>C (p.Thr201=)
NM_031885.5(BBS2):c.635T>C (p.Met212Thr)
NM_031885.5(BBS2):c.685T>C (p.Tyr229His)
NM_031885.5(BBS2):c.725A>G (p.Asn242Ser)
NM_031885.5(BBS2):c.983T>A (p.Leu328His)

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