ClinVar Miner

List of variants studied for hereditary epidermal appendage anomaly by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NR_003051.4(RMRP):n.72A>G rs199476103 0.00156
NR_003051.4(RMRP):n.17C>T rs772664375 0.00002
NM_002755.4(MAP2K1):c.388T>A (p.Tyr130Asn) rs397516793
NM_004333.6(BRAF):c.1592G>T (p.Trp531Leu) rs397507478
NM_024589.3(ROGDI):c.286C>T (p.Gln96Ter) rs387907145
NM_024589.3(ROGDI):c.506_507dup (p.Glu170fs) rs786205124
NM_030662.4(MAP2K2):c.395G>A (p.Gly132Asp) rs387906800

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