ClinVar Miner

List of variants in gene BBS1 studied for inherited retinal dystrophy

Included ClinVar conditions (417):
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806 0.21158
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys) rs138744839 0.00115
NM_024649.5(BBS1):c.163G>A (p.Val55Met) rs181765153 0.00006
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp) rs199633103 0.00006
NM_024649.5(BBS1):c.485C>T (p.Thr162Met) rs148576114 0.00004
NM_024649.5(BBS1):c.567C>G (p.His189Gln) rs768596720 0.00004
NM_024649.5(BBS1):c.88C>A (p.Pro30Thr) rs368510687 0.00004
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_024649.5(BBS1):c.75T>A (p.Asp25Glu) rs772010847 0.00003
NM_024649.5(BBS1):c.329C>A (p.Pro110His) rs750288768 0.00002
NM_024649.5(BBS1):c.447C>T (p.Pro149=) rs763738657 0.00002
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) rs193922709 0.00002
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444 0.00001
NM_024649.5(BBS1):c.437G>A (p.Arg146Gln) rs759253107 0.00001
NM_024649.5(BBS1):c.592-21A>T rs754794374 0.00001
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg) rs761760689 0.00001
NM_024649.5(BBS1):c.17dup (p.Ser7fs) rs1166022838
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) rs1057516451
NM_024649.5(BBS1):c.41C>G (p.Ala14Gly) rs774110999
NM_024649.5(BBS1):c.46A>T (p.Ser16Cys) rs772917364
NM_024649.5(BBS1):c.472A>G (p.Ser158Gly) rs2495739948
NM_024649.5(BBS1):c.48-1G>A rs751753112
NM_024649.5(BBS1):c.526C>T (p.Gln176Ter) rs777765120
NM_024649.5(BBS1):c.564A>C (p.Gln188His) rs1590757503
NM_024649.5(BBS1):c.566A>G (p.His189Arg) rs749036245
NM_024649.5(BBS1):c.638A>G (p.Glu213Gly)
NM_024649.5(BBS1):c.641A>T (p.Asp214Val)
NM_024649.5(BBS1):c.661del (p.Leu221fs)
NM_024649.5(BBS1):c.667A>G (p.Thr223Ala) rs769564460
NM_024649.5:c.(830+1_831-1)_(1110+1_1111-1)del

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