ClinVar Miner

List of variants reported as uncertain significance for congenital limb malformation by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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_001999.4(FBN2):c.7145G>A (p.Arg2382Gln) rs757161476 0.00001
NM_001164508.2(NEB):c.21302T>G (p.Leu7101Trp)
NM_002968.3(SALL1):c.1775A>G (p.Lys592Arg) rs2143444520
NM_003722.5(TP63):c.1570G>A (p.Ala524Thr) rs1403304957
NM_005055.5(RAPSN):c.1045G>A (p.Val349Ile)
NM_014875.3(KIF14):c.1270T>A (p.Tyr424Asn)
NM_133433.3(NIPBL):c.3856-?_4239+?del
NM_173660.5(DOK7):c.1258C>T (p.Pro420Ser) rs150497723

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