List of variants in gene combination LOC130009573, RFXAP reported as likely benign for MHC class II deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000538.4(RFXAP):c.24G>A (p.Glu8=)	rs540467033	0.00205
NM_000538.4(RFXAP):c.77C>G (p.Pro26Arg)	rs763162669	0.00019
NM_000538.4(RFXAP):c.129A>G (p.Gln43=)	rs762143349	0.00011
NM_000538.4(RFXAP):c.150A>G (p.Gln50=)	rs761195790	0.00007
NM_000538.4(RFXAP):c.27C>T (p.Gly9=)	rs1049663849	0.00006
NM_000538.4(RFXAP):c.108G>C (p.Ser36=)	rs1383786589	0.00002
NM_000538.4(RFXAP):c.15T>C (p.Gly5=)	rs772887500	0.00001
NM_000538.4(RFXAP):c.54G>T (p.Val18=)	rs770791539	0.00001
NM_000538.4(RFXAP):c.120_125dup (p.Ala41_Ser42dup)	rs763202512
NM_000538.4(RFXAP):c.123C>T (p.Ala41=)	rs764409673
NM_000538.4(RFXAP):c.135C>T (p.Thr45=)	rs1300922771
NM_000538.4(RFXAP):c.139C>T (p.Leu47=)
NM_000538.4(RFXAP):c.36G>T (p.Pro12=)	rs1159752147
NM_000538.4(RFXAP):c.51C>T (p.Gly17=)	rs2138212292
NM_000538.4(RFXAP):c.84G>A (p.Ala28=)	rs2500442538
NM_000538.4(RFXAP):c.9G>C (p.Ala3=)	rs771794648
NM_000538.4(RFXAP):c.9G>T (p.Ala3=)	rs771794648

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