ClinVar Miner

List of variants reported as uncertain significance for Bardet-Biedl syndrome 10 by Counsyl

Included ClinVar conditions (1):
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Total variants: 16
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HGVS dbSNP
NM_024685.4(BBS10):c.1006_1008del (p.Ser336del) rs1555202655
NM_024685.4(BBS10):c.101G>C (p.Arg34Pro) rs137852836
NM_024685.4(BBS10):c.1144G>T (p.Val382Phe) rs775492103
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val) rs537219462
NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp) rs375746803
NM_024685.4(BBS10):c.1337_1342del (p.Phe446_Ile447del) rs767108821
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925
NM_024685.4(BBS10):c.1807G>A (p.Gly603Ser) rs756523417
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641
NM_024685.4(BBS10):c.2030G>T (p.Gly677Val) rs1555202553
NM_024685.4(BBS10):c.2065A>C (p.Thr689Pro) rs759387000
NM_024685.4(BBS10):c.2T>C (p.Met1Thr) rs1382481529
NM_024685.4(BBS10):c.32T>G (p.Val11Gly) rs137852838
NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys) rs1555202700
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu) rs1555202697
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279

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