ClinVar Miner

List of variants reported as pathogenic for candidiasis, familial, 8

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_147686.4(TRAF3IP2):c.1044_1084del (p.Pro349fs) rs1583225922
NM_147686.4(TRAF3IP2):c.1222del (p.Ser408fs) rs2128374357
NM_147686.4(TRAF3IP2):c.1471C>T (p.Arg491Ter)
NM_147686.4(TRAF3IP2):c.1580C>T (p.Thr527Ile) rs397518485
NM_147686.4(TRAF3IP2):c.349del (p.Ala117fs)
NM_147686.4(TRAF3IP2):c.698_749del (p.Ser233fs)
NM_147686.4(TRAF3IP2):c.724C>T (p.Gln242Ter)
NM_147686.4(TRAF3IP2):c.7C>T (p.Arg3Ter)
NM_147686.4(TRAF3IP2):c.926_1022+148delinsTGACCTGAAAAGTCTATATTGGGCATTCCACTATGTGACTTGCTCACTAACGTGGGTTAGCAAACCTATAGAGAATTCTGTTACATCTTCATTGCATTGGCATAATTCCTTTCCATGTTAAAAATGCCTGAAGGTTGGGCCTGTCATACTTACTGGTGCCTTGGAAGCCCCGGAAAGGAGCAGTCTCTCTGTGCGGGCCTCTCTTCGTGGTCCCAGGGGCTGGGATAATTCAGGATAACCTTCTGCACAG rs1796107143

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