ClinVar Miner

List of variants in gene OFD1 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: 7
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HGVS dbSNP
NM_003611.3(OFD1):c.1061_1065del (p.Gln354fs) rs1555904480
NM_003611.3(OFD1):c.112-2del rs1555900675
NM_003611.3(OFD1):c.1603_1604del (p.Leu535fs) rs1569145145
NM_003611.3(OFD1):c.220_221insTAAAAGAGCTGC (p.Ser74delinsLeuLysGluLeuPro) rs1555900734
NM_003611.3(OFD1):c.2261-6C>G rs769923969
NM_003611.3(OFD1):c.312+1G>T rs1569102786
NM_003611.3(OFD1):c.412+1G>T rs1555901169

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