ClinVar Miner

List of variants studied for hereditary epidermal appendage anomaly by Degerman lab, Umeå University

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.2051A>G (p.Asp684Gly) rs776981958 0.00013
NM_198253.3(TERT):c.2320C>T (p.Arg774Ter) rs770066110 0.00009
NM_001099274.3(TINF2):c.845G>A (p.Arg282His) rs121918544
NM_001363.5(DKC1):c.203A>G (p.His68Arg) rs1557264102

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