List of variants in gene F12, SLC34A1 studied for angioedema

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_003052.5(SLC34A1):c.*202A>C	rs6556319	0.03226
NM_003052.5(SLC34A1):c.1635C>T (p.Gly545=)	rs7379524	0.02591
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr)	rs34225933	0.02221
NM_000505.4(F12):c.1342C>T (p.Arg448Cys)	rs115119084	0.00679
NM_003052.5(SLC34A1):c.*485G>A	rs143160780	0.00504
NM_000505.4(F12):c.1272G>C (p.Thr424=)	rs61737766	0.00486
NM_003052.5(SLC34A1):c.*179G>A	rs141664220	0.00237
NM_003052.5(SLC34A1):c.*361T>C	rs539754545	0.00096
NM_000505.4(F12):c.1299C>T (p.Asn433=)	rs17876033	0.00093
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=)	rs148575220	0.00012
NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys)	rs199565633	0.00010
NM_000505.4(F12):c.1251-7C>T	rs375340260
NM_000505.4(F12):c.1251-9C>T	rs17876032
NM_000505.4(F12):c.983C>A (p.Thr328Lys)	rs118204456

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