ClinVar Miner

List of variants in gene BBS1 reported as likely pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
GRCh37/hg19 11q13.2(chr11:66290130-66305022)
NM_024649.5(BBS1):c.124+1G>C rs1057516449
NM_024649.5(BBS1):c.158dup (p.Leu54fs) rs1313590454
NM_024649.5(BBS1):c.159+2T>A rs1057516507
NM_024649.5(BBS1):c.182del (p.Pro61fs) rs1057517007
NM_024649.5(BBS1):c.1A>C (p.Met1Leu) rs1306821707
NM_024649.5(BBS1):c.1A>T (p.Met1Leu) rs1306821707
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) rs1057516451
NM_024649.5(BBS1):c.345dup (p.Lys116Ter) rs1555046611
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024649.5(BBS1):c.433-2A>G rs1555046748
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)
NM_024649.5(BBS1):c.46A>T (p.Ser16Cys) rs772917364
NM_024649.5(BBS1):c.47+2T>C rs1182864166
NM_024649.5(BBS1):c.479+2T>G rs1353098253
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444
NM_024649.5(BBS1):c.48-1G>T rs751753112
NM_024649.5(BBS1):c.48-2A>C rs764245266
NM_024649.5(BBS1):c.480-1G>C rs1057516933
NM_024649.5(BBS1):c.518+1G>A rs771517209
NM_024649.5(BBS1):c.519-2A>G rs1057516502

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