ClinVar Miner

List of variants studied for hereditary epidermal appendage anomaly by Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center

Included ClinVar conditions (217):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter) rs139455627 0.00027
NM_144991.3(TSPEAR):c.1877T>C (p.Phe626Ser) rs369010851 0.00013
NM_001283009.2(RTEL1):c.718A>G (p.Ile240Val) rs141578937 0.00010
NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu) rs587781312 0.00004
NM_015559.3(SETBP1):c.1051G>T (p.Asp351Tyr) rs370610721 0.00001
NM_001099856.6(IKBKG):c.104G>C (p.Ser35Thr)

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