ClinVar Miner

List of variants reported as pathogenic for Meesmann corneal dystrophy by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_057088.3(KRT3):c.1525G>A (p.Glu509Lys) rs57872071 0.00001
NM_000223.4(KRT12):c.1285T>G (p.Tyr429Asp) rs58162394
NM_000223.4(KRT12):c.386T>C (p.Met129Thr) rs28936695
NM_000223.4(KRT12):c.395T>C (p.Leu132Pro) rs886038212
NM_000223.4(KRT12):c.403A>G (p.Arg135Gly) rs58410481
NM_000223.4(KRT12):c.404G>C (p.Arg135Thr) rs57218384
NM_000223.4(KRT12):c.404G>T (p.Arg135Ile) rs57218384
NM_000223.4(KRT12):c.419T>G (p.Leu140Arg) rs58918655
NM_000223.4(KRT12):c.427G>C (p.Val143Leu) rs58343600
NM_057088.3(KRT3):c.1493A>T (p.Glu498Val) rs267607431
NM_057088.3(KRT3):c.1508G>C (p.Arg503Pro) rs60410063

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