ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome 3

Included ClinVar conditions (3):
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ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001278293.3(ARL6):c.281T>C (p.Ile94Thr) rs771054395 0.00002
NM_001278293.3(ARL6):c.499G>A (p.Gly167Arg) rs764523283 0.00002
NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr) rs137854907 0.00001
NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter) rs104893678 0.00001
NM_001278293.3(ARL6):c.506G>C (p.Gly169Ala) rs104893679 0.00001
NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg) rs104893680 0.00001
NC_000003.11:g.(?_97194196)_(97510809_?)del
NC_000003.11:g.(?_97486952)_(97516893_?)del
NC_000003.11:g.(?_97498983)_(97516893_?)del
NC_000003.12:g.(?_97768108)_(97768230_?)del
NM_001278293.3(ARL6):c.127C>T (p.Gln43Ter)
NM_001278293.3(ARL6):c.185+1G>C rs1559679965
NM_001278293.3(ARL6):c.188T>A (p.Leu63Ter)
NM_001278293.3(ARL6):c.1A>G (p.Met1Val) rs2107977736
NM_001278293.3(ARL6):c.228C>A (p.Tyr76Ter)
NM_001278293.3(ARL6):c.228C>G (p.Tyr76Ter) rs2037147164
NM_001278293.3(ARL6):c.252T>G (p.Tyr84Ter)
NM_001278293.3(ARL6):c.262C>T (p.Gln88Ter)
NM_001278293.3(ARL6):c.351_353delinsGAAAA (p.Asp117fs) rs1057515576
NM_001278293.3(ARL6):c.373dup (p.Ile125fs) rs2037541934
NM_001278293.3(ARL6):c.406_409del (p.Asp136fs)
NM_001278293.3(ARL6):c.469del (p.Trp157fs)
NM_001278293.3(ARL6):c.4G>T (p.Gly2Ter) rs771628868
NM_001278293.3(ARL6):c.506del (p.Gly169fs) rs1402463567
NM_001278293.3(ARL6):c.509T>G (p.Leu170Trp) rs104893681
NM_001278293.3(ARL6):c.534A>G (p.Gln178=)
NM_001278293.3(ARL6):c.66C>A (p.Cys22Ter)
NM_001278293.3(ARL6):c.92C>T (p.Thr31Met) rs104893680

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