ClinVar Miner

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

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 98
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HGVS dbSNP
NC_000004.12:g.121855560dup
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.*1209_*1211del rs886059048
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.*729del rs3217754
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.1060_1061TA[1] (p.Tyr354_Lys355delinsTer) rs773139166
NM_176824.3(BBS7):c.1158A>G (p.Thr386=) rs146617227
NM_176824.3(BBS7):c.1184G>A (p.Ser395Asn)
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.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.1413T>A (p.Tyr471Ter) rs991365297
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.1469_1470CT[1] (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.1592T>C (p.Val531Ala)
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.1657C>T (p.Gln553Ter)
NM_176824.3(BBS7):c.1677-490_1804del rs1578522416
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.1851G>C (p.Leu617Phe)
NM_176824.3(BBS7):c.186C>T (p.Pro62=) rs35194418
NM_176824.3(BBS7):c.1890+15C>T
NM_176824.3(BBS7):c.1890+16G>A rs1507994
NM_176824.3(BBS7):c.1890+6T>C rs1553930514
NM_176824.3(BBS7):c.1891-12C>A rs2706793
NM_176824.3(BBS7):c.1891-2A>C rs1057519027
NM_176824.3(BBS7):c.192G>A (p.Pro64=) rs775906320
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.1986_1988delinsT (p.Lys662fs) rs863224529
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.271A>G (p.Arg91Gly)
NM_176824.3(BBS7):c.280A>T (p.Thr94Ser) rs202102193
NM_176824.3(BBS7):c.331A>T (p.Ile111Phe)
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.487C>T (p.Pro163Ser) rs370690441
NM_176824.3(BBS7):c.500_501insTATGAG (p.Gln168_Asp169insMetSer) rs1578564877
NM_176824.3(BBS7):c.542_543insAA (p.Met181fs) rs1553933472
NM_176824.3(BBS7):c.587A>G (p.His196Arg) rs886059054
NM_176824.3(BBS7):c.600C>T (p.Gly200=)
NM_176824.3(BBS7):c.601+3A>G
NM_176824.3(BBS7):c.632C>T (p.Thr211Ile) rs119466002
NM_176824.3(BBS7):c.651G>A (p.Ala217=) rs750691939
NM_176824.3(BBS7):c.683G>A (p.Arg228His) rs369866009
NM_176824.3(BBS7):c.709_712del (p.Lys237fs) rs587777812
NM_176824.3(BBS7):c.710_711AG[1] (p.Arg238fs) rs760165634
NM_176824.3(BBS7):c.719G>A (p.Gly240Asp) rs761403504
NM_176824.3(BBS7):c.763A>T (p.Lys255Ter) rs1560658189
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.880G>C (p.Gly294Arg)
NM_176824.3(BBS7):c.896A>G (p.Lys299Arg)
NM_176824.3(BBS7):c.949C>G (p.Leu317Val) rs869025207
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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