ClinVar Miner

List of variants in gene BBS1, ZDHHC24 studied for Retinal dystrophy

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1413C>T (p.Leu471=) rs3816492 0.17957
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_024649.5(BBS1):c.1772C>T (p.Ala591Val) rs144492051 0.00028
NM_024649.5(BBS1):c.1194C>A (p.Ile398=) rs200577824 0.00023
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser) rs148948642 0.00009
NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser) rs755782127 0.00006
NM_024649.5(BBS1):c.908T>C (p.Val303Ala) rs750668484 0.00004
NM_024649.5(BBS1):c.1660A>T (p.Ser554Cys) rs184614863 0.00002
NM_024649.5(BBS1):c.1121C>G (p.Thr374Ser) rs759275651 0.00001
NM_024649.5(BBS1):c.1320A>G (p.Arg440=) rs1430151544 0.00001
NM_024649.5(BBS1):c.1448G>A (p.Arg483Gln) rs779828966 0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778 0.00001
NM_024649.5(BBS1):c.1578G>A (p.Ala526=) rs373397428 0.00001
NM_024649.5(BBS1):c.1114_1115insTGTG (p.Ala372fs) rs1856478505
NM_024649.5(BBS1):c.1205T>C (p.Leu402Pro) rs767150997
NM_024649.5(BBS1):c.1439C>T (p.Thr480Met)
NM_024649.5(BBS1):c.1473+2T>C rs1856699646
NM_024649.5(BBS1):c.1534C>T (p.Arg512Cys)
NM_024649.5(BBS1):c.1638C>A (p.Tyr546Ter) rs1856787758
NM_024649.5(BBS1):c.1682C>G (p.Ser561Ter) rs1856790811
NM_024649.5(BBS1):c.724-8_726del rs1856202628
NM_024649.5(BBS1):c.785G>A (p.Arg262Gln)
NM_024649.5(BBS1):c.834C>G (p.Asp278Glu)
NM_024649.5(BBS1):c.887del (p.Ile296fs) rs794727006

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