ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 8

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 87
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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.910-16T>G rs199763558 0.00053
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.909+18T>C rs111707320 0.00024
NM_144596.4(TTC8):c.1262G>C (p.Arg421Thr) rs374742528 0.00021
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.1051C>T (p.Arg351Trp) rs755412340 0.00010
NM_144596.4(TTC8):c.433G>A (p.Ala145Thr) rs540856754 0.00010
NM_144596.4(TTC8):c.1294G>A (p.Glu432Lys) rs114401181 0.00009
NM_144596.4(TTC8):c.1347+18G>A rs368504643 0.00008
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.308G>T (p.Gly103Val) rs140710339 0.00007
NM_144596.4(TTC8):c.*247T>C rs886050879 0.00006
NM_144596.4(TTC8):c.4A>G (p.Ser2Gly) rs759112760 0.00006
NM_144596.4(TTC8):c.874G>A (p.Val292Ile) rs375086490 0.00006
NM_144596.4(TTC8):c.913A>G (p.Met305Val) rs143237548 0.00006
NM_144596.4(TTC8):c.1078G>A (p.Gly360Ser) rs771231605 0.00005
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.54G>A (p.Arg18=) rs745942356 0.00003
NM_144596.4(TTC8):c.980A>G (p.Glu327Gly) rs749721461 0.00003
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.43T>C (p.Phe15Leu) rs1379428942 0.00002
NM_144596.4(TTC8):c.5G>A (p.Ser2Asn) rs199571677 0.00002
NM_144596.4(TTC8):c.607G>A (p.Glu203Lys) rs1018209116 0.00002
NM_144596.4(TTC8):c.799-11C>T rs768485587 0.00002
NM_144596.4(TTC8):c.855A>C (p.Leu285Phe) rs774379732 0.00002
NM_144596.4(TTC8):c.988G>A (p.Ala330Thr) rs568563702 0.00002
NM_144596.4(TTC8):c.1133T>C (p.Met378Thr) rs1003053014 0.00001
NM_144596.4(TTC8):c.114+12C>A rs372634452 0.00001
NM_144596.4(TTC8):c.1215T>G (p.His405Gln) rs753212470 0.00001
NM_144596.4(TTC8):c.1363C>A (p.Gln455Lys) rs773278542 0.00001
NM_144596.4(TTC8):c.1402C>T (p.His468Tyr) rs148602884 0.00001
NM_144596.4(TTC8):c.1420A>G (p.Ile474Val) rs1244721977 0.00001
NM_144596.4(TTC8):c.145-10T>C rs754997963 0.00001
NM_144596.4(TTC8):c.265+1G>A rs139234943 0.00001
NM_144596.4(TTC8):c.275C>T (p.Thr92Met) rs886050877 0.00001
NM_144596.4(TTC8):c.452T>A (p.Ile151Asn) rs774233751 0.00001
NM_144596.4(TTC8):c.624+1G>A rs587777808 0.00001
NM_144596.4(TTC8):c.640G>A (p.Ala214Thr) rs1295139564 0.00001
NM_144596.4(TTC8):c.711-16A>C rs747396066 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.1049+2_1049+4del rs587777807
NM_144596.4(TTC8):c.104C>A (p.Pro35His) rs2094691079
NM_144596.4(TTC8):c.114+1G>T
NM_144596.4(TTC8):c.114+2T>C rs1273244823
NM_144596.4(TTC8):c.1464G>A (p.Ala488=) rs142073418
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.265+1_265+2del rs1595939517
NM_144596.4(TTC8):c.265+5G>A rs2094770219
NM_144596.4(TTC8):c.305C>T (p.Thr102Ile) rs1341297017
NM_144596.4(TTC8):c.324C>T (p.Ala108=) rs571883979
NM_144596.4(TTC8):c.417C>G (p.Ile139Met) rs2094779029
NM_144596.4(TTC8):c.425C>T (p.Pro142Leu)
NM_144596.4(TTC8):c.488C>T (p.Thr163Met) rs758942370
NM_144596.4(TTC8):c.589_594del (p.Glu197_Tyr198del) rs587777806
NM_144596.4(TTC8):c.69del (p.Cys23fs) rs2094690718
NM_144596.4(TTC8):c.701G>A (p.Cys234Tyr) rs1595959305
NM_144596.4(TTC8):c.798+256T>C
NM_144596.4(TTC8):c.983C>T (p.Ala328Val) rs755533153
NM_198309.3:c.(768+1_769-1)_(879+1_880-1)del

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