List of variants in gene HCN4 reported as likely pathogenic

Minimum submission review status:		Collection method:
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: 13

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HGVS	dbSNP	gnomAD frequency
NM_005477.3(HCN4):c.1454C>T (p.Ala485Val)	rs1454748709	0.00001
NM_005477.3(HCN4):c.1433G>A (p.Cys478Tyr)
NM_005477.3(HCN4):c.1438G>A (p.Gly480Ser)	rs121908411
NM_005477.3(HCN4):c.1439G>T (p.Gly480Val)	rs1060500103
NM_005477.3(HCN4):c.1441T>C (p.Tyr481His)	rs1057519275
NM_005477.3(HCN4):c.1442A>G (p.Tyr481Cys)	rs2151217044
NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg)	rs794727637
NM_005477.3(HCN4):c.1445G>A (p.Gly482Glu)	rs2151217037
NM_005477.3(HCN4):c.1471G>A (p.Asp491Asn)	rs1060500107
NM_005477.3(HCN4):c.1471G>C (p.Asp491His)	rs1060500107
NM_005477.3(HCN4):c.1590G>C (p.Lys530Asn)	rs1555475961
NM_005477.3(HCN4):c.2143+1G>A	rs1555475434
NM_005477.3(HCN4):c.2515_2518dup (p.Ala840fs)

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