ClinVar Miner

List of variants in gene BBS12 reported as benign for Bardet-Biedl syndrome

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln) rs309370 0.42071
NM_152618.3(BBS12):c.1410C>T (p.Cys470=) rs13135445 0.19015
NM_152618.3(BBS12):c.1380G>C (p.Val460=) rs13135766 0.16051
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn) rs13135778 0.15902
NM_152618.3(BBS12):c.1872A>G (p.Gln624=) rs13102440 0.15807
NM_152618.3(BBS12):c.1398C>T (p.Gly466=) rs2292493 0.13826
NM_152618.3(BBS12):c.1200G>A (p.Val400=) rs309371 0.09713
NM_152618.3(BBS12):c.51A>G (p.Gln17=) rs17006077 0.06714
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271 0.03441
NM_152618.3(BBS12):c.1209G>A (p.Val403=) rs17006092 0.03229
NM_152618.3(BBS12):c.1062G>C (p.Val354=) rs34296401 0.03153
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn) rs28507107 0.02805
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp) rs309369 0.01932
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082 0.00860
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123 0.00511
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser) rs77731085 0.00439
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634 0.00435
NM_152618.3(BBS12):c.1287T>C (p.Ser429=) rs17006094 0.00258
NM_152618.3(BBS12):c.105A>T (p.Ser35=) rs35159397 0.00156
NM_152618.3(BBS12):c.1207G>A (p.Val403Met) rs78000298 0.00069
NM_152618.3(BBS12):c.1257C>T (p.Ser419=) rs34652786 0.00025
NM_152618.3(BBS12):c.2014G>A (p.Ala672Thr) rs140895713 0.00006

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