ClinVar Miner

List of variants studied for hereditary epidermal appendage anomaly by GenomeConnect - Brain Gene Registry

Included ClinVar conditions (217):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_004004.6(GJB2):c.645del (p.Arg216fs) rs1555341794
NM_015559.3(SETBP1):c.1765C>T (p.Arg589Ter) rs1568235086
NM_015559.3(SETBP1):c.2447C>A (p.Thr816Asn) rs779562371

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