ClinVar Miner

List of variants studied for ectodermal dysplasia syndrome by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (215):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001283009.2(RTEL1):c.2932_2944del (p.Tyr978fs) rs2090805858
NM_001399.5(EDA):c.686dup (p.Gly230fs) rs1602618442
NM_003722.5(TP63):c.1570G>A (p.Ala524Thr) rs1403304957
NM_003722.5(TP63):c.802G>A (p.Glu268Lys) rs2108801803
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_014112.5(TRPS1):c.2031A>C (p.Lys677Asn)
NM_025216.3(WNT10A):c.1168G>T (p.Glu390Ter) rs750260671
NM_172232.4(ABCA5):c.3020C>T (p.Pro1007Leu)

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