ClinVar Miner

List of variants in gene BBS12 reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 21
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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.1286G>C (p.Ser429Thr) rs7665271 0.03441
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.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser) rs143960329 0.00220
NM_152618.3(BBS12):c.979T>A (p.Ser327Thr) rs116805550 0.00047
NM_152618.3(BBS12):c.978T>A (p.Thr326=) rs115635198 0.00041
NM_152618.3(BBS12):c.1506C>T (p.Ala502=) rs144855583 0.00007
NM_152618.3(BBS12):c.1135A>G (p.Lys379Glu) rs369878286 0.00006
NM_152618.3(BBS12):c.1198G>A (p.Val400Met) rs771136797 0.00005
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys) rs759088490 0.00002
NM_152618.3(BBS12):c.2021G>A (p.Arg674His) rs766952842 0.00002
NM_152618.3(BBS12):c.1658T>A (p.Leu553His) rs753004315 0.00001
NM_152618.3(BBS12):c.1849A>G (p.Thr617Ala) rs771057055 0.00001
NM_152618.3(BBS12):c.1704G>A (p.Trp568Ter) rs747904021
NM_152618.3(BBS12):c.841A>T (p.Ser281Cys) rs996402604

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