ClinVar Miner

List of variants reported as uncertain significance for Bardet-Biedl syndrome 12 by Natera, Inc.

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ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg) rs139278612 0.00048
NM_152618.3(BBS12):c.2114C>T (p.Thr705Met) rs372102223 0.00016
NM_152618.3(BBS12):c.787T>C (p.Tyr263His) rs150040166 0.00014
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) rs758217005 0.00012
NM_152618.3(BBS12):c.344T>C (p.Val115Ala) rs144179606 0.00011
NM_152618.3(BBS12):c.1261C>A (p.Arg421Ser) rs199596849 0.00010
NM_152618.3(BBS12):c.1262G>A (p.Arg421His) rs778351153 0.00009
NM_152618.3(BBS12):c.1460G>A (p.Arg487Lys) rs376531209 0.00009
NM_152618.3(BBS12):c.67G>A (p.Ala23Thr) rs371153231 0.00009
NM_152618.3(BBS12):c.1135A>G (p.Lys379Glu) rs369878286 0.00006
NM_152618.3(BBS12):c.1507G>T (p.Val503Leu) rs374865012 0.00006
NM_152618.3(BBS12):c.200G>A (p.Gly67Glu) rs767546051 0.00006
NM_152618.3(BBS12):c.140G>A (p.Ser47Asn) rs149473445 0.00005
NM_152618.3(BBS12):c.152G>C (p.Ser51Thr) rs762558855 0.00005
NM_152618.3(BBS12):c.1348G>A (p.Gly450Arg) rs1487383886 0.00004
NM_152618.3(BBS12):c.1411G>A (p.Val471Met) rs140675688 0.00004
NM_152618.3(BBS12):c.1712A>G (p.Asn571Ser) rs371908294 0.00004
NM_152618.3(BBS12):c.1A>C (p.Met1Leu) rs750366365 0.00004
NM_152618.3(BBS12):c.2094G>C (p.Gln698His) rs373082306 0.00004
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu) rs1450190654 0.00004
NM_152618.3(BBS12):c.68C>T (p.Ala23Val) rs200240034 0.00004
NM_152618.3(BBS12):c.1303G>A (p.Gly435Ser) rs762853916 0.00003
NM_152618.3(BBS12):c.1597G>A (p.Glu533Lys) rs543608786 0.00003
NM_152618.3(BBS12):c.1931A>G (p.Asn644Ser) rs777615072 0.00003
NM_152618.3(BBS12):c.1292G>A (p.Arg431Gln) rs776216693 0.00002
NM_152618.3(BBS12):c.2021G>A (p.Arg674His) rs766952842 0.00002
NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile) rs752254471 0.00001
NM_152618.3(BBS12):c.1156C>T (p.Arg386Trp) rs202225266 0.00001
NM_152618.3(BBS12):c.1205A>G (p.Gln402Arg) rs763765486 0.00001
NM_152618.3(BBS12):c.1390T>C (p.Cys464Arg) rs373652329 0.00001
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala) rs1357690062 0.00001
NM_152618.3(BBS12):c.1402G>A (p.Gly468Arg) rs144910481 0.00001
NM_152618.3(BBS12):c.1907T>C (p.Ile636Thr) rs748009027 0.00001
NM_152618.3(BBS12):c.191G>A (p.Ser64Asn) rs1361081580 0.00001
NM_152618.3(BBS12):c.191G>C (p.Ser64Thr) rs1361081580 0.00001
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445 0.00001
NM_152618.3(BBS12):c.716G>A (p.Arg239Lys) rs1179124061 0.00001
NM_152618.3(BBS12):c.79A>G (p.Arg27Gly) rs752533681 0.00001
NM_152618.3(BBS12):c.801T>A (p.Asp267Glu) rs1183146847 0.00001
NM_152618.3(BBS12):c.1401C>T (p.Asp467=) rs1578491425
NM_152618.3(BBS12):c.1459A>G (p.Arg487Gly) rs772894742
NM_152618.3(BBS12):c.1465G>A (p.Ala489Thr) rs145489987
NM_152618.3(BBS12):c.1577T>C (p.Leu526Ser) rs1560708457
NM_152618.3(BBS12):c.1635G>A (p.Leu545=) rs1800929032
NM_152618.3(BBS12):c.19G>A (p.Val7Ile) rs1464814059
NM_152618.3(BBS12):c.274G>A (p.Val92Ile) rs973844350
NM_152618.3(BBS12):c.31AGA[1] (p.Arg12del) rs752885483
NM_152618.3(BBS12):c.668A>G (p.Asp223Gly) rs1060501473
NM_152618.3(BBS12):c.745C>G (p.Pro249Ala) rs758191621
NM_152618.3(BBS12):c.810G>C (p.Glu270Asp) rs774510452
NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del) rs745504524
NM_152618.3(BBS12):c.906C>A (p.Gly302=) rs557013132
NM_152618.3(BBS12):c.977CTT[2] (p.Ser328del) rs779801356

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