ClinVar Miner

List of variants in gene RNF113A studied for ectodermal dysplasia syndrome

Included ClinVar conditions (216):
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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006978.3(RNF113A):c.484T>C (p.Tyr162His) rs2056408187
NM_006978.3(RNF113A):c.860T>C (p.Leu287Pro) rs2147812233
NM_006978.3(RNF113A):c.890_891del (p.Tyr297fs)
NM_006978.3(RNF113A):c.897_898del (p.Cys299_Asp300delinsTer) rs2056406264
NM_006978.3(RNF113A):c.901C>T (p.Gln301Ter) rs794726863
NM_006978.3(RNF113A):c.903_910del (p.Gln302fs) rs1603374549

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