ClinVar Miner

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

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_024685.4(BBS10):c.*1051C>T rs3087711
NM_024685.4(BBS10):c.*1248A>G rs115516881
NM_024685.4(BBS10):c.*498A>G rs79517322
NM_024685.4(BBS10):c.*632T>C rs78402495
NM_024685.4(BBS10):c.*769G>C rs73383520
NM_024685.4(BBS10):c.*805T>C rs73390067
NM_024685.4(BBS10):c.*87A>C rs138936387
NM_024685.4(BBS10):c.-52C>T rs79580268
NM_024685.4(BBS10):c.1074G>A (p.Ser358=) rs551803123
NM_024685.4(BBS10):c.1245T>C (p.His415=) rs147241753
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln) rs138961848
NM_024685.4(BBS10):c.1545T>C (p.Asp515=) rs77565309
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu) rs771355732
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601
NM_024685.4(BBS10):c.966T>C (p.Tyr322=) rs139053702

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