ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 8 by Illumina Laboratory Services, Illumina

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_144596.4(TTC8):c.*238G>A rs1048190 0.20574
NM_144596.4(TTC8):c.1432-12T>C rs79747892 0.03653
NM_144596.4(TTC8):c.*472A>C rs59300815 0.03638
NM_144596.4(TTC8):c.*57C>T rs74079414 0.01106
NM_144596.4(TTC8):c.*493T>C rs60082659 0.01012
NM_144596.4(TTC8):c.625-5C>T rs137853922 0.00807
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly) rs114557412 0.00354
NM_144596.4(TTC8):c.1401G>A (p.Pro467=) rs114064158 0.00319
NM_144596.4(TTC8):c.-25G>A rs7145692 0.00290
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478 0.00272
NM_144596.4(TTC8):c.*93G>A rs116740320 0.00263
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) rs142938748 0.00227
NM_144596.4(TTC8):c.1077C>T (p.Asn359=) rs150896551 0.00141
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) rs140698625 0.00064
NM_144596.4(TTC8):c.*83A>G rs147325843 0.00059
NM_144596.4(TTC8):c.330-15T>A rs187484893 0.00059
NM_144596.4(TTC8):c.669G>A (p.Lys223=) rs141304350 0.00026
NM_144596.4(TTC8):c.*92C>T rs148799039 0.00024
NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala) rs376411291 0.00021
NM_144596.4(TTC8):c.1463C>T (p.Ala488Val) rs199649536 0.00016
NM_144596.4(TTC8):c.267C>A (p.Arg89=) rs200113889 0.00008
NM_144596.4(TTC8):c.905A>G (p.Tyr302Cys) rs370111364 0.00008
NM_144596.4(TTC8):c.*247T>C rs886050879 0.00006
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_144596.4(TTC8):c.800T>A (p.Val267Asp) rs770333148 0.00004
NM_144596.4(TTC8):c.1042T>C (p.Phe348Leu) rs200086953 0.00002
NM_144596.4(TTC8):c.1382C>T (p.Ala461Val) rs139195149 0.00002
NM_144596.4(TTC8):c.5G>A (p.Ser2Asn) rs199571677 0.00002
NM_144596.4(TTC8):c.799-11C>T rs768485587 0.00002
NM_144596.4(TTC8):c.275C>T (p.Thr92Met) rs886050877 0.00001
NM_144596.4(TTC8):c.640G>A (p.Ala214Thr) rs1295139564 0.00001
NM_144596.4(TTC8):c.950A>C (p.Glu317Ala) rs1220094479 0.00001
NM_144596.4(TTC8):c.*17A>G rs1164204068
NM_144596.4(TTC8):c.*377C>T rs1395639006
NM_144596.4(TTC8):c.*418G>A rs2094963356
NM_144596.4(TTC8):c.*45A>C rs1273103151
NM_144596.4(TTC8):c.-38C>A rs886050876
NM_144596.4(TTC8):c.-44C>T rs571786285
NM_144596.4(TTC8):c.1464G>C (p.Ala488=) rs142073418
NM_144596.4(TTC8):c.1491C>T (p.Asp497=) rs886050878
NM_144596.4(TTC8):c.305C>T (p.Thr102Ile) rs1341297017
NM_144596.4(TTC8):c.417C>G (p.Ile139Met) rs2094779029

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