ClinVar Miner

List of variants in gene BBS10 reported as likely benign for Bardet-Biedl syndrome

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_024685.4(BBS10):c.102G>T (p.Arg34=)
NM_024685.4(BBS10):c.1041T>C (p.Gly347=)
NM_024685.4(BBS10):c.1050A>G (p.Pro350=)
NM_024685.4(BBS10):c.1158G>A (p.Leu386=) rs138702315
NM_024685.4(BBS10):c.1245T>C (p.His415=) rs147241753
NM_024685.4(BBS10):c.1287T>C (p.Asp429=)
NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile) rs199878555
NM_024685.4(BBS10):c.1412A>T (p.Asp471Val)
NM_024685.4(BBS10):c.147G>A (p.Arg49=)
NM_024685.4(BBS10):c.1548A>T (p.Thr516=)
NM_024685.4(BBS10):c.1566G>A (p.Thr522=)
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser)
NM_024685.4(BBS10):c.1617A>G (p.Pro539=)
NM_024685.4(BBS10):c.1669A>G (p.Ile557Val) rs139719799
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925
NM_024685.4(BBS10):c.1743G>A (p.Pro581=)
NM_024685.4(BBS10):c.1776A>G (p.Ser592=)
NM_024685.4(BBS10):c.1941T>G (p.Ser647=)
NM_024685.4(BBS10):c.198-10T>C rs376497190
NM_024685.4(BBS10):c.2142T>G (p.Val714=)
NM_024685.4(BBS10):c.372T>A (p.Ser124=) rs143366878
NM_024685.4(BBS10):c.375G>A (p.Arg125=)
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601
NM_024685.4(BBS10):c.429T>C (p.Gly143=)
NM_024685.4(BBS10):c.42G>A (p.Ala14=) rs373458861
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg) rs140585012
NM_024685.4(BBS10):c.462G>A (p.Leu154=)
NM_024685.4(BBS10):c.474G>A (p.Ser158=)
NM_024685.4(BBS10):c.474G>T (p.Ser158=) rs375436323
NM_024685.4(BBS10):c.607A>G (p.Thr203Ala)
NM_024685.4(BBS10):c.637T>C (p.Leu213=)
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279
NM_024685.4(BBS10):c.783A>G (p.Thr261=)
NM_024685.4(BBS10):c.861A>G (p.Gln287=)
NM_024685.4(BBS10):c.957T>C (p.Val319=)

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