ClinVar Miner

List of variants reported as uncertain significance for congenital limb malformation by Mayo Clinic Laboratories, Mayo Clinic

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_001378183.1(PIEZO2):c.6223C>T (p.Arg2075Cys) rs577065337 0.00061
NM_001378183.1(PIEZO2):c.152C>T (p.Thr51Met) rs371432372 0.00044
NM_033419.5(PGAP3):c.209A>T (p.Tyr70Phe) rs146132289 0.00006
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_001005361.3(DNM2):c.197G>A (p.Arg66Gln) rs1568283807
NM_001378183.1(PIEZO2):c.1867G>A (p.Glu623Lys) rs1555647548
NM_005055.5(RAPSN):c.793G>A (p.Ala265Thr) rs200695559

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