List of variants in gene KCNH5 studied for Developmental and epileptic encephalopathy, 12

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_139318.5(KCNH5):c.1388T>C (p.Ile463Thr)	rs2502867283
NM_139318.5(KCNH5):c.1402A>C (p.Thr468Pro)	rs1294653855
NM_139318.5(KCNH5):c.1412T>C (p.Phe471Ser)	rs2502867213
NM_139318.5(KCNH5):c.2020-4A>G	rs2502654819
NM_139318.5(KCNH5):c.980G>A (p.Arg327His)	rs587777164
NM_139318.5(KCNH5):c.998G>A (p.Arg333His)	rs1383017734

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