List of variants in gene EPAS1, LOC126806210 studied for immune system disorder

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001430.5(EPAS1):c.574-11G>A	rs199730851	0.00336
NM_001430.5(EPAS1):c.779+8G>T	rs201393458	0.00212
NM_001430.5(EPAS1):c.525G>A (p.Thr175=)	rs115264325	0.00137
NM_001430.5(EPAS1):c.574-5C>G	rs150877473	0.00007
NM_001430.5(EPAS1):c.768C>T (p.Tyr256=)	rs374493349	0.00001
NM_001430.5(EPAS1):c.587C>A (p.Thr196Lys)	rs780349023
NM_001430.5(EPAS1):c.587C>T (p.Thr196Met)
NM_001430.5(EPAS1):c.591C>A (p.Gly197=)	rs1392533284
NM_001430.5(EPAS1):c.605A>G (p.Tyr202Cys)

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