ClinVar Miner

List of variants in gene BBS1 reported as uncertain significance for Bardet-Biedl syndrome 1

Included ClinVar conditions (1):
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Gene type:
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Total variants: 16
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NM_024649.5(BBS1):c.190C>G (p.Gln64Glu) rs369843749
NM_024649.5(BBS1):c.200G>A (p.Arg67His)
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys) rs138744839
NM_024649.5(BBS1):c.243G>A (p.Pro81=)
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_024649.5(BBS1):c.338A>G (p.Tyr113Cys)
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) rs878855095
NM_024649.5(BBS1):c.432+13C>T rs759287238
NM_024649.5(BBS1):c.441C>T (p.Ile147=)
NM_024649.5(BBS1):c.447C>T (p.Pro149=) rs763738657
NM_024649.5(BBS1):c.485C>A (p.Thr162Lys)
NM_024649.5(BBS1):c.496C>G (p.Pro166Ala)
NM_024649.5(BBS1):c.616T>G (p.Leu206Val) rs146052054
NM_024649.5(BBS1):c.636C>T (p.Asp212=) rs775900681
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg) rs761760689
NM_024649.5(BBS1):c.6C>T (p.Ala2=) rs143592479

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