ClinVar Miner

List of variants reported as pathogenic for choroideremia by Mendelics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000390.4(CHM):c.1053_1056dup (p.Asp353fs) rs1603262410
NM_000390.4(CHM):c.1350-1G>A rs2148153587
NM_000390.4(CHM):c.1573C>T (p.Gln525Ter) rs1603236385
NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs) rs1924193863
NM_000390.4(CHM):c.1680del (p.Ser561fs) rs1556207100
NM_000390.4(CHM):c.29_30del (p.Asp10fs) rs1603288815
NM_000390.4(CHM):c.437T>G (p.Leu146Ter) rs2147676177
NM_000390.4(CHM):c.820-2A>G rs1556307713
NM_000390.4(CHM):c.961del (p.Tyr321fs) rs2147663454

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