List of variants in gene EGLN1 studied for Familial erythrocytosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_022051.3(EGLN1):c.1236_1237insTG	rs564384828	0.00264
NM_022051.3(EGLN1):c.*1965A>G	rs185322052	0.00035
NM_022051.2(EGLN1):c.-1296T>G	rs568496391	0.00030
NM_022051.2(EGLN1):c.-1634_-1633AG[1]	rs145140638
NM_022051.2(EGLN1):c.-1662_-1661delAC	rs886046126
NM_022051.2(EGLN1):c.-2692_-2689delACTC	rs577920148
NM_022051.2(EGLN1):c.-3146dup	rs111995599
NM_022051.3(EGLN1):c.*1410ATTTT[1]	rs886046099
NM_022051.3(EGLN1):c.1428_1429del	rs886046098
NM_022051.3(EGLN1):c.1434_1436del	rs201012894
NM_022051.3(EGLN1):c.1802_1803dup	rs541569859
NM_022051.3(EGLN1):c.2416_2419del	rs574848765
NM_022051.3(EGLN1):c.261_263del	rs886046108
NM_022051.3(EGLN1):c.555_559del	rs886046105
NM_022051.3(EGLN1):c.*648del	rs149920332
NM_022051.3(EGLN1):c.*758GTTTT[2]	rs576306593
NM_022051.3(EGLN1):c.1217-10del	rs371155853
NM_022051.3(EGLN1):c.1217-10dup	rs371155853

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