ClinVar Miner

List of variants reported as uncertain significance for Bardet-Biedl syndrome 1 by Counsyl

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_024649.5(BBS1):c.*10T>A rs765633556
NM_024649.5(BBS1):c.1061A>G (p.Glu354Gly) rs1555048530
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln) rs758139447
NM_024649.5(BBS1):c.1535G>A (p.Arg512His) rs202205304
NM_024649.5(BBS1):c.1631T>A (p.Leu544His) rs1555050401
NM_024649.5(BBS1):c.1676_1678del (p.Gly559_Ile560delinsVal) rs1555050422
NM_024649.5(BBS1):c.1695G>A (p.Lys565=) rs1555050427
NM_024649.5(BBS1):c.1702G>A (p.Val568Met) rs754300140
NM_024649.5(BBS1):c.1717C>T (p.Gln573Ter) rs1450045618
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg) rs761760689
NM_024649.5(BBS1):c.952G>A (p.Gly318Arg) rs1555048487

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