ClinVar Miner

List of variants reported as benign for choroideremia

Included ClinVar conditions (1):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000390.4(CHM):c.315-1543T>C rs12835678 0.27812
NM_000390.4(CHM):c.315-1541C>A rs10217834 0.17278
NM_000390.4(CHM):c.351A>G (p.Ala117=) rs10217950 0.17011
NM_000390.4(CHM):c.265A>T (p.Ser89Cys) rs145707160 0.01253
NM_000390.4(CHM):c.238C>T (p.Leu80Phe) rs55741408 0.00895
NM_000390.4(CHM):c.1620A>G (p.Gln540=) rs140479582 0.00057
NM_000390.4(CHM):c.205G>C (p.Val69Leu) rs145088557 0.00056
NM_000390.4(CHM):c.29A>G (p.Asp10Gly) rs138374611 0.00042
NM_000390.4(CHM):c.8A>G (p.Asp3Gly) rs149255670 0.00035
NM_000390.4(CHM):c.1511-6del rs775072539
NM_000390.4(CHM):c.447G>T (p.Met149Ile) rs746057999

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