ClinVar Miner

List of variants reported as uncertain significance for Bardet-Biedl syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (37):
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Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_001165927.1(MKS1):c.1513C>T (p.Arg505Cys) rs775558298
NM_001165927.1(MKS1):c.338G>A (p.Arg113Gln) rs202112856
NM_001165927.1(MKS1):c.514G>A (p.Val172Ile) rs200185068
NM_001165927.1(MKS1):c.88C>T (p.His30Tyr) rs199832333
NM_001365068.1(ASTN2):c.2806+26861G>A rs754554333
NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro) rs541533278
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) rs150070966
NM_015910.7(WDPCP):c.1438G>A (p.Val480Ile) rs201412509
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn) rs202196322
NM_018848.3(MKKS):c.1474G>A (p.Asp492Asn) rs142327258
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys) rs138744839
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile) rs764963626
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=) rs371582975
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val) rs183071230
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His) rs371833544
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_144596.4(TTC8):c.1051C>T (p.Arg351Trp) rs755412340
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) rs140698625
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp) rs143113298
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile) rs370004832

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