ClinVar Miner

List of variants reported as likely pathogenic for annular epidermolytic ichthyosis

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000421.5(KRT10):c.470T>G (p.Leu157Arg)
NM_006121.4(KRT1):c.1436T>C (p.Ile479Thr) rs57837128
NM_006121.4(KRT1):c.1453C>T (p.Leu485Phe) rs1555171247
NM_006121.4(KRT1):c.532T>C (p.Ser178Pro) rs1941559064
NM_006121.4(KRT1):c.563A>G (p.Asn188Ser) rs58928370
NM_006121.4(KRT1):c.564C>G (p.Asn188Lys) rs59429455

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