ClinVar Miner

List of variants studied for ichthyosis, annular epidermolytic 1

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000421.5(KRT10):c.1459C>T (p.His487Tyr) rs17855579 0.74556
NM_000421.5(KRT10):c.376G>A (p.Gly126Ser) rs77919366 0.17640
NM_000421.5(KRT10):c.1264_1265delinsGA (p.Arg422Glu) rs59075499
NM_000421.5(KRT10):c.1337T>C (p.Ile446Thr) rs62651994
NM_000421.5(KRT10):c.1654AGCTCCGGCGGCGGATACGGCGGCGGCAGC[3] (p.556GYGGGSSSGG[3]) rs776920005
NM_000421.5(KRT10):c.1654_1683dup (p.Gly556_Gly565dup) rs776920005
NM_000421.5(KRT10):c.1749-10A>G
NM_000421.5(KRT10):c.466C>T (p.Arg156Cys) rs58852768
NM_000421.5(KRT10):c.470T>G (p.Leu157Arg)
NM_000421.5(KRT10):c.49GGA[9] (p.Gly24dup) rs148510452
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.1847G>A (p.Arg616Gln)
NM_006121.4(KRT1):c.532T>C (p.Ser178Pro) rs1941559064
NM_006121.4(KRT1):c.564C>G (p.Asn188Lys) rs59429455

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