ClinVar Miner

List of variants reported as likely pathogenic for BBS10-related ciliopathy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_024685.4(BBS10):c.1837T>C (p.Tyr613His) rs141647931 0.00004
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_024685.4(BBS10):c.1000_1001insGA (p.Leu334Ter) rs1555202657 0.00001
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu) rs778431173 0.00001
NM_024685.4(BBS10):c.1009G>T (p.Glu337Ter)
NM_024685.4(BBS10):c.1010AAG[1] (p.Glu338del) rs750611000
NM_024685.4(BBS10):c.1063C>T (p.Gln355Ter)
NM_024685.4(BBS10):c.1122del (p.Ile375fs)
NM_024685.4(BBS10):c.1122dup (p.Ile375fs) rs753604828
NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)
NM_024685.4(BBS10):c.118A>T (p.Lys40Ter) rs202228478
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val) rs537219462
NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs) rs1389599028
NM_024685.4(BBS10):c.1448_1452del (p.Thr483fs) rs786204705
NM_024685.4(BBS10):c.146G>T (p.Arg49Leu)
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter) rs898539189
NM_024685.4(BBS10):c.157_170dup (p.Leu58fs)
NM_024685.4(BBS10):c.1646C>G (p.Ser549Ter)
NM_024685.4(BBS10):c.1654G>T (p.Gly552Ter) rs2136090024
NM_024685.4(BBS10):c.1669del (p.Ile557fs)
NM_024685.4(BBS10):c.1677C>G (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.1775C>A (p.Ser592Ter)
NM_024685.4(BBS10):c.1860dup (p.Cys621fs)
NM_024685.4(BBS10):c.1892_1896del (p.Met631fs)
NM_024685.4(BBS10):c.197+1G>T rs886042729
NM_024685.4(BBS10):c.2030del (p.Gly677fs) rs1064796315
NM_024685.4(BBS10):c.391del (p.Gln131fs)
NM_024685.4(BBS10):c.400_401del (p.Leu134fs)
NM_024685.4(BBS10):c.445dup (p.Leu149fs) rs770053320
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter) rs863224522
NM_024685.4(BBS10):c.550dup (p.Arg184fs)
NM_024685.4(BBS10):c.625_632del (p.Ile208_Gly209insTer)
NM_024685.4(BBS10):c.646dup (p.Asp216fs) rs1555202695
NM_024685.4(BBS10):c.686C>G (p.Pro229Arg)
NM_024685.4(BBS10):c.725_737del (p.Gln242fs)
NM_024685.4(BBS10):c.793C>T (p.Gln265Ter) rs775090151
NM_024685.4(BBS10):c.799_800del (p.Leu267fs)
NM_024685.4(BBS10):c.844_845del (p.Gln282fs)
NM_024685.4(BBS10):c.84C>A (p.Cys28Ter) rs1476664656
NM_024685.4(BBS10):c.858_859dup (p.Gln287fs) rs1057516836
NM_024685.4(BBS10):c.877A>T (p.Lys293Ter)
NM_024685.4(BBS10):c.924G>T (p.Leu308Phe)
NM_024685.4(BBS10):c.955del (p.Val319fs)
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs) rs2136091654

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