ClinVar Miner

List of variants in gene HK1 studied for Charcot-Marie-Tooth disease type 4

Included ClinVar conditions (30):

Amyotrophic lateral sclerosis type 11; Bilateral parasagittal parieto-occipital polymicrogyria; Charcot-Marie-Tooth disease type 4J; Yunis-Varon syndrome
Amyotrophic lateral sclerosis type 11; Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Autosomal dominant Charcot-Marie-Tooth disease type 2K
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D; Roussy-Lévy syndrome; Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma
Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4C; Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4G
Charcot-Marie-Tooth disease type 4G; Hemolytic anemia due to hexokinase deficiency; Retinitis pigmentosa 79
Charcot-Marie-Tooth disease type 4G; Hemolytic anemia due to hexokinase deficiency; Retinitis pigmentosa 79; Neurodevelopmental disorder with visual defects and brain anomalies
Charcot-Marie-Tooth disease type 4G; Neurodevelopmental disorder with visual defects and brain anomalies
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4J; Yunis-Varon syndrome
Charcot-Marie-Tooth disease type 4K
Cytochrome-c oxidase deficiency disease; Charcot-Marie-Tooth disease type 4K
Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4F
Leigh syndrome due to mitochondrial complex IV deficiency; Charcot-Marie-Tooth disease type 4K
Leigh syndrome; Charcot-Marie-Tooth disease type 4K

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: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001358263.1(HK1):c.75+5174A>G	rs906220	0.89921
NM_000188.3(HK1):c.1443G>A (p.Lys481=)	rs748235	0.80224
NM_000188.3(HK1):c.1839+31G>A	rs749105	0.70672
NM_000188.3(HK1):c.2219+27T>C	rs2278745	0.56586
NM_000188.3(HK1):c.78C>G (p.Leu26=)	rs1133189	0.36523
NM_000188.3(HK1):c.1031+6T>C	rs57012387	0.01704
NM_001358263.1(HK1):c.53T>C (p.Leu18Pro)	rs79002951	0.00265
NM_001358263.1(HK1):c.4G>A (p.Gly2Arg)	rs766565453	0.00004
NM_000188.3(HK1):c.949G>A (p.Gly317Ser)	rs202028638	0.00002
NM_000188.3(HK1):c.1720-3C>T	rs1256697528	0.00001
NM_001358263.1(HK1):c.19C>T (p.Arg7Ter)	rs779250530	0.00001
NM_000188.3(HK1):c.1252A>G (p.Lys418Glu)	rs1564557037
NM_000188.3(HK1):c.1370C>T (p.Thr457Met)	rs1057517928
NM_000188.3(HK1):c.1871dup (p.Ala625fs)	rs754451671
NM_000188.3(HK1):c.271C>T (p.Arg91Ter)
NM_001358263.1(HK1):c.-270G>C	rs397514654
NM_001358263.1(HK1):c.-290G>C	rs797044964
NM_001358263.1(HK1):c.1A>G (p.Met1Val)	rs1589439508
NM_001358263.1(HK1):c.75+23T>C	rs4746837

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