ClinVar Miner

List of variants studied for hereditary skin disorder by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

Included ClinVar conditions (768):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly) rs797044910
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_004333.6(BRAF):c.1914T>G (p.Asp638Glu) rs180177042
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453

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