List of variants in gene EGLN1 reported as likely benign for primary familial polycythemia due to EPO receptor mutation

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_022051.3(EGLN1):c.1236_1237insTG	rs564384828	0.00264
NM_022051.2(EGLN1):c.-1296T>G	rs568496391	0.00030
NM_022051.2(EGLN1):c.-1634_-1633AG[1]	rs145140638
NM_022051.2(EGLN1):c.-2689_-2686delCACT	rs577920148
NM_022051.3(EGLN1):c.1434_1436del	rs201012894
NM_022051.3(EGLN1):c.2416_2419del	rs574848765
NM_022051.3(EGLN1):c.*758GTTTT[2]	rs576306593

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