ClinVar Miner

List of variants in gene LORICRIN studied for loricrin keratoderma

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000427.3(LORICRIN):c.624C>G (p.Tyr208Ter) rs888685157 0.00001
NM_000427.3(LORICRIN):c.112GGC[5] (p.Gly41dup) rs770195151
NM_000427.3(LORICRIN):c.272C>T (p.Ser91Phe)
NM_000427.3(LORICRIN):c.515dup (p.Gly173fs)
NM_000427.3(LORICRIN):c.664dup (p.Gln222fs)
NM_000427.3(LORICRIN):c.684dup (p.Ser229fs) rs886041212
NM_000427.3(LORICRIN):c.736G>C (p.Gly246Arg)

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