ClinVar Miner

List of variants in gene RFXAP reported as benign for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000538.4(RFXAP):c.*550T>C rs9547679 0.84878
NM_000538.4(RFXAP):c.*1253G>A rs10976 0.17219
NM_000538.4(RFXAP):c.*1092A>G rs17054519 0.02297
NM_000538.4(RFXAP):c.*55A>G rs7321405 0.01975
NM_000538.4(RFXAP):c.*719C>T rs115679698 0.00957
NM_000538.4(RFXAP):c.*472C>T rs150569371 0.00380
NM_000538.4(RFXAP):c.756A>G (p.Gln252=) rs141918438 0.00087
NM_000538.4(RFXAP):c.312C>T (p.Ser104=) rs373233313 0.00056
NM_000538.4(RFXAP):c.666A>G (p.Ala222=) rs139675642 0.00043
NM_000538.4(RFXAP):c.*33del rs398022347

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