ClinVar Miner

List of variants in gene BBS2 reported by Counsyl

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Gene type:
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Total variants: 65
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HGVS dbSNP
NM_031885.3(BBS2):c.1528_1539del12 (p.Val510_Trp513del) rs1555521575
NM_031885.4(BBS2):c.1015C>T (p.Arg339Ter) rs193922710
NM_031885.4(BBS2):c.1046T>G (p.Leu349Trp) rs752280639
NM_031885.4(BBS2):c.1081-1G>T rs1555522000
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.1237C>T (p.Arg413Ter) rs147030232
NM_031885.4(BBS2):c.1438C>T (p.Arg480Ter) rs778090540
NM_031885.4(BBS2):c.1523A>C (p.Gln508Pro) rs115328064
NM_031885.4(BBS2):c.1662C>G (p.Ile554Met) rs774112668
NM_031885.4(BBS2):c.1705C>T (p.Gln569Ter) rs1555521501
NM_031885.4(BBS2):c.175C>T (p.Gln59Ter) rs121908176
NM_031885.4(BBS2):c.1780C>T (p.Arg594Ter) rs762047808
NM_031885.4(BBS2):c.1797+1G>A rs1555521489
NM_031885.4(BBS2):c.1814C>G (p.Ser605Ter) rs201063733
NM_031885.4(BBS2):c.1864C>T (p.Arg622Ter) rs201196733
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.1895G>C (p.Arg632Pro) rs138043021
NM_031885.4(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.4(BBS2):c.1910+9T>G rs751604858
NM_031885.4(BBS2):c.1911-1G>A rs1555520256
NM_031885.4(BBS2):c.1928G>A (p.Arg643His) rs532361142
NM_031885.4(BBS2):c.1946_1952del (p.Asp649fs) rs745951028
NM_031885.4(BBS2):c.1969G>T (p.Gly657Ter) rs1166717771
NM_031885.4(BBS2):c.2038C>T (p.Gln680Ter) rs1555520220
NM_031885.4(BBS2):c.2043_2058dup (p.Val687fs) rs1555520212
NM_031885.4(BBS2):c.2060-1G>T rs1555520142
NM_031885.4(BBS2):c.2107C>T (p.Arg703Ter) rs567573386
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.224T>G (p.Val75Gly) rs121908174
NM_031885.4(BBS2):c.241G>T (p.Gly81Cys) rs750506474
NM_031885.4(BBS2):c.311A>C (p.Asp104Ala) rs121908179
NM_031885.4(BBS2):c.324_343del (p.Asn108fs) rs1555523964
NM_031885.4(BBS2):c.334T>C (p.Phe112Leu) rs772864503
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+1G>A rs1555523584
NM_031885.4(BBS2):c.471G>A (p.Thr157=) rs749983428
NM_031885.4(BBS2):c.534+1G>T rs773862084
NM_031885.4(BBS2):c.534+7G>C rs886052149
NM_031885.4(BBS2):c.55del (p.Val19fs) rs1555524593
NM_031885.4(BBS2):c.563del (p.Ile188fs) rs1367927635
NM_031885.4(BBS2):c.565C>T (p.Arg189Ter) rs1273181642
NM_031885.4(BBS2):c.627_628del (p.Cys210fs) rs773417074
NM_031885.4(BBS2):c.646C>T (p.Arg216Ter) rs121908180
NM_031885.4(BBS2):c.661del (p.Leu221fs) rs770258677
NM_031885.4(BBS2):c.691A>G (p.Lys231Glu) rs754487754
NM_031885.4(BBS2):c.700C>T (p.Arg234Ter) rs779690256
NM_031885.4(BBS2):c.717+1G>A rs1047075022
NM_031885.4(BBS2):c.717+2T>G rs1555522893
NM_031885.4(BBS2):c.72C>G (p.Tyr24Ter) rs121908175
NM_031885.4(BBS2):c.730_732del (p.Ala244del) rs1171314440
NM_031885.4(BBS2):c.766G>A (p.Gly256Arg) rs886052147
NM_031885.4(BBS2):c.814C>T (p.Arg272Ter) rs764164384
NM_031885.4(BBS2):c.86C>T (p.Pro29Leu) rs771211831
NM_031885.4(BBS2):c.918_919dup (p.Cys307fs) rs1555522252
NM_031885.4(BBS2):c.940+1del rs746171104
NM_031885.4(BBS2):c.941-1G>T rs777234811
NM_031885.4(BBS2):c.941-2A>C rs878962682
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.98C>A (p.Ala33Asp) rs797045155
NM_031885.5(BBS2):c.327G>A rs770497817

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