ClinVar Miner

List of variants in gene BBS12 reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Gene type:
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Total variants: 17
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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.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.714T>G (p.Asn238Lys) rs17006082 0.00860
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634 0.00435
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser) rs143960329 0.00220
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg) rs139278612 0.00048
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089 0.00001

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