ClinVar Miner

List of variants in gene OFD1 reported as likely benign for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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NM_003611.3(OFD1):c.1698C>T (p.Ile566=) rs1019902525
NM_003611.3(OFD1):c.2319A>G (p.Pro773=) rs752137789
NM_003611.3(OFD1):c.282C>T (p.Phe94=) rs762169661
NM_003611.3(OFD1):c.2931C>T (p.Ser977=) rs1555908984
NM_003611.3(OFD1):c.355C>A (p.Pro119Thr) rs202103941
NM_003611.3(OFD1):c.69A>G (p.Leu23=) rs1060503868
NM_003611.3(OFD1):c.705A>G (p.Lys235=) rs773888732

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