ClinVar Miner

List of variants reported as pathogenic for Jackson-Weiss syndrome by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_022970.3(FGFR2):c.1087+1303T>A rs121918488
NM_022970.3(FGFR2):c.1087+1303T>C rs121918488
NM_022970.3(FGFR2):c.1087+1310C>G rs121918492
NM_022970.3(FGFR2):c.866A>C (p.Gln289Pro) rs121918497
NM_023110.2(FGFR1):c.755C>G (p.Pro252Arg) rs121909627

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