ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 7

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Total variants: 74
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HGVS dbSNP
NM_176824.3(BBS7):c.*1139T>C rs542533305
NM_176824.3(BBS7):c.*1161A>G
NM_176824.3(BBS7):c.*1202G>A rs3217756
NM_176824.3(BBS7):c.*1286G>A rs1507996
NM_176824.3(BBS7):c.*1324G>A rs181687808
NM_176824.3(BBS7):c.*1361A>T
NM_176824.3(BBS7):c.*1526C>T rs546122158
NM_176824.3(BBS7):c.*250T>G rs80171619
NM_176824.3(BBS7):c.*273T>C rs190252263
NM_176824.3(BBS7):c.*304A>C rs886059052
NM_176824.3(BBS7):c.*353G>A
NM_176824.3(BBS7):c.*419T>A rs3762840
NM_176824.3(BBS7):c.*513C>T rs577071672
NM_176824.3(BBS7):c.*605G>A rs886059051
NM_176824.3(BBS7):c.*690T>C rs3217753
NM_176824.3(BBS7):c.*709G>C rs886059050
NM_176824.3(BBS7):c.*724C>T
NM_176824.3(BBS7):c.*828A>G
NM_176824.3(BBS7):c.*932T>G rs3217755
NM_176824.3(BBS7):c.*996T>C rs886059049
NM_176824.3(BBS7):c.-133C>G rs2271176
NM_176824.3(BBS7):c.-137A>G
NM_176824.3(BBS7):c.-19G>C rs757523715
NM_176824.3(BBS7):c.-98C>T
NM_176824.3(BBS7):c.1012A>T (p.Met338Leu)
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer) rs773139166
NM_176824.3(BBS7):c.1158A>G (p.Thr386=) rs146617227
NM_176824.3(BBS7):c.11T>C (p.Ile4Thr) rs542274936
NM_176824.3(BBS7):c.1217_1218del (p.Asn406fs)
NM_176824.3(BBS7):c.1234G>T (p.Asp412Tyr) rs758567781
NM_176824.3(BBS7):c.1235A>G (p.Asp412Gly) rs111442398
NM_176824.3(BBS7):c.125G>A (p.Gly42Glu) rs1221499782
NM_176824.3(BBS7):c.1263T>A (p.Asp421Glu)
NM_176824.3(BBS7):c.1306-5C>T
NM_176824.3(BBS7):c.1311C>T (p.Asn437=) rs199812109
NM_176824.3(BBS7):c.1334A>G (p.Tyr445Cys)
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys) rs150743868
NM_176824.3(BBS7):c.1381A>G (p.Ile461Val)
NM_176824.3(BBS7):c.1442G>A (p.Cys481Tyr) rs886059053
NM_176824.3(BBS7):c.1458C>A (p.Tyr486Ter) rs1470030897
NM_176824.3(BBS7):c.1471_1472del (p.Leu491fs)
NM_176824.3(BBS7):c.1486A>G (p.Arg496Gly)
NM_176824.3(BBS7):c.1505A>G (p.His502Arg) rs114718913
NM_176824.3(BBS7):c.1512-7A>T rs115987385
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del) rs587777836
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr) rs143700362
NM_176824.3(BBS7):c.171G>A (p.Val57=) rs144525608
NM_176824.3(BBS7):c.1851G>C (p.Leu617Phe)
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg)
NM_176824.3(BBS7):c.1890+15C>T
NM_176824.3(BBS7):c.1891-12C>A rs2706793
NM_176824.3(BBS7):c.1891-2A>C rs1057519027
NM_176824.3(BBS7):c.1942T>G (p.Cys648Gly) rs201096775
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs) rs672601379
NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser) rs370656021
NM_176824.3(BBS7):c.280A>T (p.Thr94Ser) rs202102193
NM_176824.3(BBS7):c.302T>A (p.Leu101His)
NM_176824.3(BBS7):c.331A>T (p.Ile111Phe)
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530
NM_176824.3(BBS7):c.442A>C (p.Asn148His)
NM_176824.3(BBS7):c.487C>T (p.Pro163Ser) rs370690441
NM_176824.3(BBS7):c.497C>T (p.Ala166Val)
NM_176824.3(BBS7):c.500_501insTATGAG (p.Gln168_Asp169insMetSer) rs1578564877
NM_176824.3(BBS7):c.587A>G (p.His196Arg) rs886059054
NM_176824.3(BBS7):c.600C>T (p.Gly200=)
NM_176824.3(BBS7):c.651G>A (p.Ala217=) rs750691939
NM_176824.3(BBS7):c.709_712del (p.Lys237fs) rs587777812
NM_176824.3(BBS7):c.719G>A (p.Gly240Asp) rs761403504
NM_176824.3(BBS7):c.87_88del (p.His29fs) rs1578577361
NM_176824.3(BBS7):c.880G>C (p.Gly294Arg)
NM_176824.3(BBS7):c.896A>G (p.Lys299Arg)
NM_176824.3(BBS7):c.917T>C (p.Val306Ala)
NM_176824.3(BBS7):c.949C>G (p.Leu317Val) rs869025207
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001

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