ClinVar Miner

List of variants studied for congenital limb malformation by Hadassah Hebrew University Medical Center

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_018062.4(FANCL):c.641T>C (p.Leu214Pro) rs766618785 0.00002
NM_001374353.1(GLI2):c.900del (p.Ser301fs) rs2105019803
NM_004260.4(RECQL4):c.1038_1039del (p.Arg347fs) rs1586821679
NM_181789.4(GLDN):c.385_392del (p.Cys129fs) rs2037658180

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