ClinVar Miner

List of variants studied for ectodermal dysplasia and immunodeficiency 2 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_020529.3(NFKBIA):c.101T>C (p.Leu34Pro)
NM_020529.3(NFKBIA):c.107C>A (p.Ser36Tyr) rs1566591076
NM_020529.3(NFKBIA):c.110T>A (p.Met37Lys) rs1566591073
NM_020529.3(NFKBIA):c.110T>G (p.Met37Arg) rs1566591073
NM_020529.3(NFKBIA):c.32G>A (p.Trp11Ter) rs121913664
NM_020529.3(NFKBIA):c.40G>T (p.Glu14Ter) rs121913665
NM_020529.3(NFKBIA):c.94A>G (p.Ser32Gly) rs1566591086
NM_020529.3(NFKBIA):c.95G>A (p.Ser32Asn) rs28933100
NM_020529.3(NFKBIA):c.95G>T (p.Ser32Ile) rs28933100
NM_020529.3(NFKBIA):c.96C>G (p.Ser32Arg) rs1566591082

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