ClinVar Miner

List of variants studied for diffuse palmoplantar keratoderma by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005557.4(KRT16):c.539C>T (p.Ala180Val) rs142750223 0.00104
NM_153212.3(GJB4):c.386G>A (p.Trp129Ter) rs148182439 0.00006
NM_000427.3(LORICRIN):c.112GGC[5] (p.Gly41dup) rs770195151
NM_020751.3(COG6):c.1746+2T>G rs1555280464

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