ClinVar Miner

List of variants studied for hereditary epidermal appendage anomaly by Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn

Included ClinVar conditions (217):
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ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter) rs1591672193
NM_001854.4(COL11A1):c.3816+5G>A rs1057524237
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.1796C>G (p.Thr599Arg) rs121913375
NM_004333.6(BRAF):c.1798G>C (p.Val600Leu) rs121913378
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) rs886040971
NM_014112.5(TRPS1):c.2110del (p.Cys704fs) rs1586431903
NM_014112.5(TRPS1):c.2725dup (p.Cys909fs) rs1554617582

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