ClinVar Miner

List of variants in gene combination KRT18, LOC106096416 reported by Epithelial Biology; Institute of Medical Biology, Singapore

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000224.3(KRT18):c.689G>C (p.Ser230Thr) rs58472472 0.00405
NM_000224.3(KRT18):c.500+38G>A rs143051595 0.00176
NM_000224.3(KRT18):c.448A>G (p.Ile150Val) rs59979366 0.00107
NM_000224.3(KRT18):c.418-4C>G rs267607652 0.00076
NM_000224.3(KRT18):c.890C>T (p.Thr297Ile) rs115810585 0.00024
NM_000224.3(KRT18):c.884C>T (p.Thr295Met) rs267607418 0.00011
NM_000224.3(KRT18):c.993C>T (p.Tyr331=) rs58138700 0.00006
NM_000224.3(KRT18):c.854A>G (p.Gln285Arg) rs59112368 0.00004
NM_000224.3(KRT18):c.1232G>A (p.Arg411His) rs148580152 0.00003
NM_000224.3(KRT18):c.782G>A (p.Arg261Gln) rs57354642 0.00002
NM_000224.3(KRT18):c.1018G>A (p.Gly340Arg) rs57370769
NM_000224.3(KRT18):c.827A>G (p.Glu276Gly) rs61696408

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