ClinVar Miner

List of variants reported as likely benign for keratinopathic ichthyosis

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000421.5(KRT10):c.376G>A (p.Gly126Ser) rs77919366 0.17640
NM_000423.2(KRT2):c.*466A>C rs188447443 0.00209
NM_000423.3(KRT2):c.*216G>A rs139377296 0.00057
NM_000423.3(KRT2):c.134G>A (p.Arg45His) rs149447253 0.00021
NM_000423.3(KRT2):c.1720G>A (p.Gly574Arg) rs139954107 0.00013
NM_000423.3(KRT2):c.1719C>T (p.Tyr573=) rs141769548 0.00006
NM_006121.4(KRT1):c.1475+14G>A rs369324638 0.00006
NM_000423.3(KRT2):c.546C>A (p.Ile182=) rs371939083 0.00005
NM_000423.3(KRT2):c.294C>T (p.Gly98=) rs182369139 0.00004
NM_000423.3(KRT2):c.1204G>A (p.Val402Met) rs756976713 0.00003
NM_000423.3(KRT2):c.1373G>A (p.Arg458Gln) rs755662199 0.00001
NM_000421.5(KRT10):c.1749-10A>G
NM_000421.5(KRT10):c.49GGA[9] (p.Gly24dup) rs148510452

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