ClinVar Miner

List of variants reported as likely pathogenic for choroideremia

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.86047630G>A rs2147819369
NM_000390.4(CHM):c.116+1G>A rs786204761
NM_000390.4(CHM):c.1168_1244+1del
NM_000390.4(CHM):c.1186G>T (p.Gly396Ter)
NM_000390.4(CHM):c.129T>A (p.Tyr43Ter)
NM_000390.4(CHM):c.1402del (p.Ser468fs)
NM_000390.4(CHM):c.1530C>A (p.Cys510Ter)
NM_000390.4(CHM):c.1A>G (p.Met1Val) rs1057516265
NM_000390.4(CHM):c.22G>T (p.Glu8Ter) rs1603288832
NM_000390.4(CHM):c.309T>A (p.Tyr103Ter) rs897855683
NM_000390.4(CHM):c.315-1536A>G rs1555955061
NM_000390.4(CHM):c.386del (p.Asn129fs)
NM_000390.4(CHM):c.453dup (p.Glu152Ter)
NM_000390.4(CHM):c.539del (p.Asn180fs) rs1930424354
NM_000390.4(CHM):c.70_71insAGACAGT (p.Ala24fs)
NM_000390.4(CHM):c.73_74insTATAAGAGACAGT (p.Ala25delinsValTer)
NM_000390.4(CHM):c.82_83del (p.Ser28fs)
NM_000390.4(CHM):c.83C>G (p.Ser28Ter) rs2147791162
NM_000390.4(CHM):c.963T>A (p.Tyr321Ter)

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