ClinVar Miner

List of variants reported as uncertain significance for Bardet-Biedl syndrome 5 by Fulgent Genetics, Fulgent Genetics

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp) rs143113298 0.00086
NM_152384.3(BBS5):c.32G>A (p.Arg11Gln) rs150931960 0.00024
NM_152384.3(BBS5):c.197G>A (p.Arg66Lys) rs200250398 0.00018
NM_152384.3(BBS5):c.824C>T (p.Pro275Leu) rs376275481 0.00009
NM_152384.3(BBS5):c.593A>G (p.Asn198Ser) rs369075832 0.00007
NM_152384.3(BBS5):c.308G>A (p.Ser103Asn) rs567175904 0.00006
NM_152384.3(BBS5):c.542T>C (p.Phe181Ser) rs758508869 0.00006
NM_152384.3(BBS5):c.829G>A (p.Glu277Lys) rs754858756 0.00005
NM_152384.3(BBS5):c.185T>C (p.Leu62Ser) rs370501865 0.00004
NM_152384.3(BBS5):c.770A>G (p.Tyr257Cys) rs376537695 0.00004
NM_152384.3(BBS5):c.110T>C (p.Ile37Thr) rs370849006 0.00003
NM_152384.3(BBS5):c.668A>T (p.Glu223Val) rs775524491 0.00003
NM_152384.3(BBS5):c.229T>A (p.Leu77Met) rs753387321 0.00002
NM_152384.3(BBS5):c.475C>T (p.His159Tyr) rs757525125 0.00002
NM_152384.3(BBS5):c.935G>A (p.Arg312His) rs751420732 0.00002
NM_152384.3(BBS5):c.203A>G (p.Asn68Ser) rs754978707 0.00001
NM_152384.3(BBS5):c.259-3C>T rs564412855 0.00001
NM_152384.3(BBS5):c.325A>G (p.Ile109Val) rs758307712 0.00001
NM_152384.3(BBS5):c.332C>T (p.Thr111Ile) rs375992092 0.00001
NM_152384.3(BBS5):c.428G>A (p.Arg143Lys) rs754764547 0.00001
NM_152384.3(BBS5):c.472G>A (p.Glu158Lys) rs1683625962 0.00001
NM_152384.3(BBS5):c.479T>C (p.Val160Ala) rs1243189875 0.00001
NM_152384.3(BBS5):c.60-10T>G rs1224093899 0.00001
NM_152384.3(BBS5):c.844G>A (p.Glu282Lys) rs759233586 0.00001
NM_152384.3(BBS5):c.900G>C (p.Val300=) rs757001492 0.00001
NM_152384.3(BBS5):c.925-4A>G rs765104819 0.00001
NM_152384.3(BBS5):c.92T>C (p.Ile31Thr) rs1395749164 0.00001
NM_152384.3(BBS5):c.1000C>T (p.Gln334Ter)
NM_152384.3(BBS5):c.112G>C (p.Glu38Gln)
NM_152384.3(BBS5):c.11T>A (p.Leu4Gln)
NM_152384.3(BBS5):c.143-8G>T
NM_152384.3(BBS5):c.211G>A (p.Val71Ile) rs1397496181
NM_152384.3(BBS5):c.259-3C>G rs564412855
NM_152384.3(BBS5):c.291A>G (p.Ile97Met)
NM_152384.3(BBS5):c.339G>C (p.Leu113Phe)
NM_152384.3(BBS5):c.356G>T (p.Arg119Ile)
NM_152384.3(BBS5):c.361T>C (p.Phe121Leu)
NM_152384.3(BBS5):c.370G>A (p.Val124Met)
NM_152384.3(BBS5):c.569A>C (p.His190Pro) rs755408078
NM_152384.3(BBS5):c.59+5G>A rs2105290053
NM_152384.3(BBS5):c.60G>A (p.Gln20=)
NM_152384.3(BBS5):c.661G>T (p.Val221Phe)
NM_152384.3(BBS5):c.674C>T (p.Ser225Phe)
NM_152384.3(BBS5):c.77C>G (p.Pro26Arg)
NM_152384.3(BBS5):c.790G>A (p.Gly264Arg) rs2105301667
NM_152384.3(BBS5):c.793G>A (p.Val265Ile)
NM_152384.3(BBS5):c.807G>A (p.Met269Ile)
NM_152384.3(BBS5):c.855A>G (p.Gln285=) rs2468048552
NM_152384.3(BBS5):c.861T>G (p.Asp287Glu)
NM_152384.3(BBS5):c.879T>A (p.Asp293Glu)
NM_152384.3(BBS5):c.898G>T (p.Val300Leu)
NM_152384.3(BBS5):c.924G>A (p.Lys308=)
NM_152384.3(BBS5):c.937G>A (p.Glu313Lys)
NM_152384.3(BBS5):c.98G>A (p.Cys33Tyr)

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