ClinVar Miner

List of variants in gene HCN1 reported as pathogenic for complex neurodevelopmental disorder

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_021072.4(HCN1):c.1138A>T (p.Ile380Phe) rs2112040738
NM_021072.4(HCN1):c.1159G>T (p.Ala387Ser) rs2112040690
NM_021072.4(HCN1):c.1160C>G (p.Ala387Gly)
NM_021072.4(HCN1):c.1171G>A (p.Gly391Ser) rs1561139569
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp) rs1057519547
NM_021072.4(HCN1):c.1172G>T (p.Gly391Val) rs1057519547
NM_021072.4(HCN1):c.1201G>C (p.Asp401His) rs587777491
NM_021072.4(HCN1):c.1522G>A (p.Val508Met) rs180790607
NM_021072.4(HCN1):c.1562G>T (p.Gly521Val) rs1745671912
NM_021072.4(HCN1):c.299C>T (p.Ser100Phe) rs587777492
NM_021072.4(HCN1):c.459G>C (p.Met153Ile) rs1057519548
NM_021072.4(HCN1):c.585G>T (p.Arg195Ser)
NM_021072.4(HCN1):c.701A>T (p.Tyr234Phe) rs1554037381
NM_021072.4(HCN1):c.814T>C (p.Ser272Pro) rs587777493
NM_021072.4(HCN1):c.835C>T (p.His279Tyr) rs587777495
NM_021072.4(HCN1):c.890G>C (p.Arg297Thr) rs587777494
NM_021072.4(HCN1):c.913A>T (p.Met305Leu) rs1057521989

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