ClinVar Miner

List of variants studied for choroideremia by Institute of Human Genetics, University of Goettingen

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000390.4(CHM):c.1402del (p.Ser468fs) rs2520095436
NM_000390.4(CHM):c.1714G>A (p.Val572Ile) rs2148120495
NM_000390.4(CHM):c.232C>T (p.Gln78Ter) rs2147706580
NM_000390.4(CHM):c.368_390dup (p.Thr131delinsLeuLeuTer) rs2147676302

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