ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 7 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_176824.3(BBS7):c.1891-12C>A rs2706793 0.79185
NM_176824.3(BBS7):c.-133C>G rs2271176 0.31261
NM_176824.3(BBS7):c.*419T>A rs3762840 0.29292
NM_176824.3(BBS7):c.*690T>C rs3217753 0.26976
NM_176824.3(BBS7):c.*1286G>A rs1507996 0.21106
NM_176824.3(BBS7):c.*1202G>A rs3217756 0.00843
NM_176824.3(BBS7):c.1505A>G (p.His502Arg) rs114718913 0.00589
NM_176824.3(BBS7):c.1512-7A>T rs115987385 0.00545
NM_176824.3(BBS7):c.*250T>G rs80171619 0.00193
NM_176824.3(BBS7):c.1235A>G (p.Asp412Gly) rs111442398 0.00154
NM_176824.3(BBS7):c.*353G>A rs570995801 0.00100
NM_176824.3(BBS7):c.171G>A (p.Val57=) rs144525608 0.00060
NM_176824.3(BBS7):c.*1526C>T rs546122158 0.00041
NM_176824.3(BBS7):c.1158A>G (p.Thr386=) rs146617227 0.00029
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys) rs150743868 0.00025
NM_176824.3(BBS7):c.1263T>A (p.Asp421Glu) rs146412602 0.00023
NM_176824.3(BBS7):c.*1324G>A rs181687808 0.00018
NM_176824.3(BBS7):c.*513C>T rs577071672 0.00016
NM_176824.3(BBS7):c.*709G>C rs886059050 0.00016
NM_176824.3(BBS7):c.280A>T (p.Thr94Ser) rs202102193 0.00016
NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser) rs370656021 0.00011
NM_176824.3(BBS7):c.*724C>T rs1025886041 0.00009
NM_176824.3(BBS7):c.1381A>G (p.Ile461Val) rs141224967 0.00009
NM_176824.3(BBS7):c.*1139T>C rs542533305 0.00008
NM_176824.3(BBS7):c.1311C>T (p.Asn437=) rs199812109 0.00008
NM_176824.3(BBS7):c.*932T>G rs3217755 0.00007
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr) rs143700362 0.00006
NM_176824.3(BBS7):c.*605G>A rs886059051 0.00004
NM_176824.3(BBS7):c.1942T>G (p.Cys648Gly) rs201096775 0.00003
NM_176824.3(BBS7):c.-19G>C rs757523715 0.00002
NM_176824.3(BBS7):c.1234G>T (p.Asp412Tyr) rs758567781 0.00002
NM_176824.3(BBS7):c.*1361A>T rs544492413 0.00001
NM_176824.3(BBS7):c.*996T>C rs886059049 0.00001
NM_176824.3(BBS7):c.-137A>G rs1727529496 0.00001
NM_176824.3(BBS7):c.1306-5C>T rs1475632900 0.00001
NM_176824.3(BBS7):c.1334A>G (p.Tyr445Cys) rs776931328 0.00001
NM_176824.3(BBS7):c.1442G>A (p.Cys481Tyr) rs886059053 0.00001
NM_176824.3(BBS7):c.651G>A (p.Ala217=) rs750691939 0.00001
NM_176824.3(BBS7):c.*1161A>G rs918127402
NM_176824.3(BBS7):c.*273T>C rs190252263
NM_176824.3(BBS7):c.*304A>C rs886059052
NM_176824.3(BBS7):c.*828A>G rs879827169
NM_176824.3(BBS7):c.-98C>T rs546649349
NM_176824.3(BBS7):c.11T>C (p.Ile4Thr) rs542274936
NM_176824.3(BBS7):c.1458C>A (p.Tyr486Ter) rs1470030897
NM_176824.3(BBS7):c.1486A>G (p.Arg496Gly) rs1560643809
NM_176824.3(BBS7):c.1851G>C (p.Leu617Phe) rs1725011147
NM_176824.3(BBS7):c.1890+15C>T rs761350391
NM_176824.3(BBS7):c.1891-2A>C rs1057519027
NM_176824.3(BBS7):c.331A>T (p.Ile111Phe) rs1726975256
NM_176824.3(BBS7):c.487C>T (p.Pro163Ser) rs370690441
NM_176824.3(BBS7):c.587A>G (p.His196Arg) rs886059054
NM_176824.3(BBS7):c.600C>T (p.Gly200=) rs370053625
NM_176824.3(BBS7):c.896A>G (p.Lys299Arg) rs1726155956

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