ClinVar Miner

List of variants studied for ichthyosis vulgaris by MGZ Medical Genetics Center

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002016.2(FLG):c.2362C>T (p.Arg788Ter) rs183942200 0.00012
NM_002016.2(FLG):c.10926del (p.Ile3642fs) rs2525135967
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137

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