ClinVar Miner

List of variants in gene combination LOC130055497, NFKBIA reported as likely benign for ectodermal dysplasia syndrome

Included ClinVar conditions (215):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_020529.3(NFKBIA):c.63G>A (p.Lys21=) rs779802553 0.00001
NM_020529.3(NFKBIA):c.-87_-80dup rs540103354
NM_020529.3(NFKBIA):c.12G>A (p.Ala4=)
NM_020529.3(NFKBIA):c.18G>A (p.Glu6=)
NM_020529.3(NFKBIA):c.27G>A (p.Gln9=)
NM_020529.3(NFKBIA):c.2T>C (p.Met1Thr)
NM_020529.3(NFKBIA):c.30G>A (p.Glu10=) rs2138834404
NM_020529.3(NFKBIA):c.45C>T (p.Gly15=) rs2138834371
NM_020529.3(NFKBIA):c.51C>T (p.Arg17=)
NM_020529.3(NFKBIA):c.54C>T (p.Asp18=)
NM_020529.3(NFKBIA):c.61AAG[1] (p.Lys22del) rs760942646

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