ClinVar Miner

List of variants in gene KRT2 reported as benign for autosomal recessive congenital ichthyosis

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000423.3(KRT2):c.150C>T (p.Gly50=) rs11835758 0.35932
NM_000423.3(KRT2):c.301A>G (p.Ser101Gly) rs2634041 0.11972
NM_000423.3(KRT2):c.656G>A (p.Gly219Asp) rs638043 0.10514
NM_000423.3(KRT2):c.1650C>T (p.Gly550=) rs2232562 0.02388
NM_000423.3(KRT2):c.168C>T (p.Gly56=) rs637247 0.01409
NM_000423.3(KRT2):c.*447C>T rs3825222 0.01383
NM_000423.3(KRT2):c.1550C>G (p.Ala517Gly) rs35043606 0.01192
NM_000423.3(KRT2):c.*335A>G rs141659798 0.00961
NM_000423.3(KRT2):c.*215C>T rs117041267 0.00953
NM_000423.3(KRT2):c.317G>A (p.Ser106Asn) rs74660757 0.00875
NM_000423.3(KRT2):c.*300T>C rs58532645 0.00588
NM_000423.3(KRT2):c.1249-7G>T rs2232556 0.00472
NM_000423.3(KRT2):c.58C>T (p.Arg20Trp) rs141817495 0.00315
NM_000423.3(KRT2):c.100C>T (p.Arg34Trp) rs35460418 0.00270
NM_000423.3(KRT2):c.1500T>C (p.Thr500=) rs142620105 0.00133
NM_000423.3(KRT2):c.1289G>A (p.Arg430His) rs2232557 0.00123
NM_000423.3(KRT2):c.*279T>C rs146357787 0.00110
NM_000423.3(KRT2):c.348C>T (p.Gly116=) rs145263416 0.00099
NM_000423.3(KRT2):c.*354C>T rs138563926 0.00098
NM_000423.3(KRT2):c.*42T>C rs2232563 0.00086
NM_000423.3(KRT2):c.1281C>T (p.Ala427=) rs143712313 0.00074
NM_000423.3(KRT2):c.767A>G (p.Asn256Ser) rs144222539 0.00043
NM_000423.3(KRT2):c.1203C>T (p.Arg401=) rs375452938 0.00025
NM_000423.3(KRT2):c.474C>T (p.Ser158=) rs372572918 0.00014
NM_000423.3(KRT2):c.133C>T (p.Arg45Cys) rs202186833 0.00013
NM_000423.3(KRT2):c.536G>A (p.Arg179His) rs202243677 0.00012
NM_000423.3(KRT2):c.1272C>T (p.Ile424=) rs753957075 0.00011
NM_000423.3(KRT2):c.1478G>T (p.Gly493Val) rs374913826 0.00010
NM_000423.3(KRT2):c.1699G>A (p.Gly567Ser) rs199836359 0.00010
NM_000423.3(KRT2):c.*411C>T rs542479365 0.00008
NM_000423.3(KRT2):c.940A>G (p.Lys314Glu) rs139316403 0.00008
NM_000423.3(KRT2):c.1249-4A>G rs759623198 0.00004
NM_000423.3(KRT2):c.1698C>T (p.Gly566=) rs186531871 0.00004
NM_000423.3(KRT2):c.339C>T (p.Phe113=) rs532474326 0.00003
NM_000423.3(KRT2):c.861+6C>G rs556825530 0.00003
NM_000423.3(KRT2):c.1147G>A (p.Gly383Arg) rs527533989 0.00002
NM_000423.3(KRT2):c.823C>G (p.Arg275Gly) rs2232551 0.00002
NM_000423.3(KRT2):c.407G>A (p.Gly136Glu) rs544732271 0.00001
NM_000423.3(KRT2):c.303_304insGGC (p.Ser101_Phe102insGly) rs56850150
NM_000423.3(KRT2):c.492C>T (p.Asn164=) rs201708557
NM_000423.3(KRT2):c.589C>A (p.Arg197=) rs201344610

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