List of variants in gene combination CHM, LOC129391306 reported as pathogenic for choroideremia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000390.4(CHM):c.368_390dup (p.Thr131delinsLeuLeuTer)	rs2147676302
NM_000390.4(CHM):c.386_399delinsG (p.Asn129fs)	rs1930439753
NM_000390.4(CHM):c.402dup (p.Asp135fs)
NM_000390.4(CHM):c.419del (p.Pro140fs)	rs1930438584
NM_000390.4(CHM):c.437T>G (p.Leu146Ter)	rs2147676177
NM_000390.4(CHM):c.469C>T (p.Gln157Ter)	rs1930431885

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