ClinVar Miner

List of variants in gene BBS7 studied for Bardet-Biedl syndrome

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Gene type:
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Total variants: 75
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HGVS dbSNP
NM_176824.3(BBS7):c.*1209_*1211del rs886059048
NM_176824.3(BBS7):c.*729del rs3217754
NM_176824.3(BBS7):c.1024A>G (p.Ile342Val)
NM_176824.3(BBS7):c.1036C>T (p.Arg346Trp)
NM_176824.3(BBS7):c.1038G>A (p.Arg346=)
NM_176824.3(BBS7):c.1060_1061TA[1] (p.Tyr354_Lys355delinsTer) rs773139166
NM_176824.3(BBS7):c.1142T>C (p.Ile381Thr)
NM_176824.3(BBS7):c.1158A>G (p.Thr386=) rs146617227
NM_176824.3(BBS7):c.1184G>A (p.Ser395Asn)
NM_176824.3(BBS7):c.1235A>G (p.Asp412Gly) rs111442398
NM_176824.3(BBS7):c.1263T>A (p.Asp421Glu)
NM_176824.3(BBS7):c.1289G>A (p.Ser430Asn)
NM_176824.3(BBS7):c.1311C>T (p.Asn437=) rs199812109
NM_176824.3(BBS7):c.1371+1G>A rs1578537379
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys) rs150743868
NM_176824.3(BBS7):c.1381A>G (p.Ile461Val)
NM_176824.3(BBS7):c.1410A>G (p.Ala470=)
NM_176824.3(BBS7):c.1413T>A (p.Tyr471Ter) rs991365297
NM_176824.3(BBS7):c.1421C>G (p.Pro474Arg)
NM_176824.3(BBS7):c.1487G>A (p.Arg496Lys)
NM_176824.3(BBS7):c.148A>G (p.Lys50Glu)
NM_176824.3(BBS7):c.1505A>G (p.His502Arg) rs114718913
NM_176824.3(BBS7):c.1512-7A>T rs115987385
NM_176824.3(BBS7):c.1517T>C (p.Met506Thr)
NM_176824.3(BBS7):c.1574T>G (p.Val525Gly)
NM_176824.3(BBS7):c.1592T>C (p.Val531Ala)
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr) rs143700362
NM_176824.3(BBS7):c.1604C>T (p.Pro535Leu)
NM_176824.3(BBS7):c.1654dup (p.Thr552fs)
NM_176824.3(BBS7):c.1657C>T (p.Gln553Ter)
NM_176824.3(BBS7):c.1677-490_1804del rs1578522416
NM_176824.3(BBS7):c.1691T>C (p.Val564Ala)
NM_176824.3(BBS7):c.171G>A (p.Val57=) rs144525608
NM_176824.3(BBS7):c.1786+1G>T rs1560638613
NM_176824.3(BBS7):c.1786G>A (p.Glu596Lys) rs1233058112
NM_176824.3(BBS7):c.1806C>G (p.Val602=) rs752970955
NM_176824.3(BBS7):c.186C>T (p.Pro62=) rs35194418
NM_176824.3(BBS7):c.1890+6T>C rs1553930514
NM_176824.3(BBS7):c.192G>A (p.Pro64=) rs775906320
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs) rs672601379
NM_176824.3(BBS7):c.1986_1988delinsT (p.Lys662fs) rs863224529
NM_176824.3(BBS7):c.1991C>T (p.Pro664Leu)
NM_176824.3(BBS7):c.1996C>T (p.His666Tyr)
NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser) rs370656021
NM_176824.3(BBS7):c.223A>G (p.Ile75Val) rs138872188
NM_176824.3(BBS7):c.257C>T (p.Ala86Val)
NM_176824.3(BBS7):c.271A>G (p.Arg91Gly)
NM_176824.3(BBS7):c.280A>T (p.Thr94Ser) rs202102193
NM_176824.3(BBS7):c.340A>C (p.Met114Leu)
NM_176824.3(BBS7):c.342-3C>G rs1244071022
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530
NM_176824.3(BBS7):c.454T>C (p.Cys152Arg) rs863224814
NM_176824.3(BBS7):c.479G>A (p.Arg160His)
NM_176824.3(BBS7):c.508A>G (p.Arg170Gly)
NM_176824.3(BBS7):c.529-1dup
NM_176824.3(BBS7):c.542_543insAA (p.Met181fs) rs1553933472
NM_176824.3(BBS7):c.578T>C (p.Leu193Ser)
NM_176824.3(BBS7):c.601+3A>G
NM_176824.3(BBS7):c.632C>T (p.Thr211Ile) rs119466002
NM_176824.3(BBS7):c.683G>A (p.Arg228His) rs369866009
NM_176824.3(BBS7):c.68T>G (p.Leu23Arg)
NM_176824.3(BBS7):c.710_711AG[1] (p.Arg238fs) rs760165634
NM_176824.3(BBS7):c.748G>T (p.Val250Leu)
NM_176824.3(BBS7):c.763A>T (p.Lys255Ter) rs1560658189
NM_176824.3(BBS7):c.76G>A (p.Ala26Thr)
NM_176824.3(BBS7):c.785A>G (p.Asp262Gly)
NM_176824.3(BBS7):c.794T>C (p.Met265Thr)
NM_176824.3(BBS7):c.821C>T (p.Ala274Val)
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter)
NM_176824.3(BBS7):c.852G>A (p.Met284Ile)
NM_176824.3(BBS7):c.85_86CA[1] (p.His29fs) rs1578577361
NM_176824.3(BBS7):c.863G>A (p.Ser288Asn)
NM_176824.3(BBS7):c.964A>G (p.Ile322Val)
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001
NM_176824.3(BBS7):c.976A>G (p.Ser326Gly) rs863224815

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