ClinVar Miner

List of variants in gene BBS5 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: 6
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HGVS dbSNP
GRCh38/hg38 2q31.1(chr2:169498679-169508441)
NM_152384.3(BBS5):c.143-1G>C
NM_152384.3(BBS5):c.386+1G>T rs1559122277
NM_152384.3(BBS5):c.532G>A (p.Gly178Arg) rs786205636
NM_152384.3(BBS5):c.817-1G>A rs1466289570
NM_152384.3(BBS5):c.966dup (p.Ala323fs) rs1553529427

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