ClinVar Miner

List of variants in gene RFXAP reported as benign for MHC class II deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000538.3(RFXAP):c.*1092A>G rs17054519
NM_000538.3(RFXAP):c.*1253G>A rs10976
NM_000538.3(RFXAP):c.*33del rs398022347
NM_000538.3(RFXAP):c.*472C>T rs150569371
NM_000538.3(RFXAP):c.*550T>C rs9547679
NM_000538.3(RFXAP):c.*55A>G rs7321405
NM_000538.3(RFXAP):c.24G>A (p.Glu8=) rs540467033
NM_000538.3(RFXAP):c.312C>T (p.Ser104=) rs373233313
NM_000538.3(RFXAP):c.410T>C (p.Met137Thr) rs193240312
NM_000538.3(RFXAP):c.430G>A (p.Glu144Lys) rs201754085
NM_000538.3(RFXAP):c.666A>G (p.Ala222=) rs139675642
NM_000538.3(RFXAP):c.756A>G (p.Gln252=) rs141918438
NM_000538.4(RFXAP):c.*719C>T

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