ClinVar Miner

List of variants reported as likely benign for Bardet-Biedl syndrome 10

Included ClinVar conditions (1):
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_024685.4(BBS10):c.1669A>G (p.Ile557Val) rs139719799 0.00167
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925 0.00159
NM_024685.4(BBS10):c.1245T>C (p.His415=) rs147241753 0.00130
NM_024685.4(BBS10):c.957T>C (p.Val319=) rs139645096 0.00039
NM_024685.4(BBS10):c.474G>T (p.Ser158=) rs375436323 0.00032
NM_024685.4(BBS10):c.1923C>T (p.Pro641=) rs201449351 0.00015
NM_024685.4(BBS10):c.1050A>G (p.Pro350=) rs370953693 0.00014
NM_024685.4(BBS10):c.372T>A (p.Ser124=) rs143366878 0.00014
NM_024685.4(BBS10):c.102G>T (p.Arg34=) rs376601112 0.00013
NM_024685.4(BBS10):c.27G>T (p.Gly9=) rs370213920 0.00012
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser) rs146812823 0.00010
NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile) rs199878555 0.00009
NM_024685.4(BBS10):c.1629C>T (p.Asn543=) rs145124702 0.00008
NM_024685.4(BBS10):c.429T>C (p.Gly143=) rs146587757 0.00006
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg) rs140585012 0.00006
NM_024685.4(BBS10):c.1412A>T (p.Asp471Val) rs200718870 0.00004
NM_024685.4(BBS10):c.197+13C>G rs758349250 0.00004
NM_024685.4(BBS10):c.1287T>C (p.Asp429=) rs771468663 0.00003
NM_024685.4(BBS10):c.1743G>A (p.Pro581=) rs150530553 0.00003
NM_024685.4(BBS10):c.462G>A (p.Leu154=) rs764687344 0.00003
NM_024685.4(BBS10):c.402A>G (p.Leu134=) rs762331843 0.00002
NM_024685.4(BBS10):c.637T>C (p.Leu213=) rs367795705 0.00002
NM_024685.4(BBS10):c.861A>G (p.Gln287=) rs753223078 0.00002
NM_024685.4(BBS10):c.2142T>G (p.Val714=) rs1463359253 0.00001
NM_024685.4(BBS10):c.6A>G (p.Leu2=) rs1333383849 0.00001
NM_024685.4(BBS10):c.1074G>T (p.Ser358=) rs551803123
NM_024685.4(BBS10):c.1092C>T (p.Asn364=) rs1951763479
NM_024685.4(BBS10):c.1158G>A (p.Leu386=) rs138702315
NM_024685.4(BBS10):c.147G>A (p.Arg49=) rs1592493118
NM_024685.4(BBS10):c.1602T>G (p.Thr534=) rs750402316
NM_024685.4(BBS10):c.1684T>C (p.Leu562=) rs111773727
NM_024685.4(BBS10):c.2167C>T (p.Leu723=) rs1003705267
NM_024685.4(BBS10):c.648C>T (p.Asp216=) rs748037727

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