ClinVar Miner

List of variants in gene BBS10 reported as benign for Bardet-Biedl syndrome 10

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_024685.4(BBS10):c.*1051C>T rs3087711 0.77456
NM_024685.4(BBS10):c.*769G>C rs73383520 0.10902
NM_024685.4(BBS10):c.*498A>G rs79517322 0.06435
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114 0.05430
NM_024685.4(BBS10):c.*805T>C rs73390067 0.04252
NM_024685.4(BBS10):c.-52C>T rs79580268 0.04214
NM_024685.4(BBS10):c.*1248A>G rs115516881 0.01249
NM_024685.4(BBS10):c.*87A>C rs138936387 0.00985
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974 0.00618
NM_024685.4(BBS10):c.966T>C (p.Tyr322=) rs139053702 0.00560
NM_024685.4(BBS10):c.1545T>C (p.Asp515=) rs77565309 0.00093
NM_024685.4(BBS10):c.*632T>C rs78402495 0.00073
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln) rs138961848 0.00008
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu) rs771355732 0.00001
NM_024685.4(BBS10):c.1074G>A (p.Ser358=) rs551803123

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