List of variants in gene CHM, LOC129391306 studied for choroideremia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000390.4(CHM):c.351A>G (p.Ala117=)	rs10217950	0.16853
NM_000390.4(CHM):c.352C>G (p.Leu118Val)	rs1355442853	0.00002
NM_000390.4(CHM):c.368C>T (p.Ala123Val)	rs372532715	0.00002
NM_000390.4(CHM):c.484G>A (p.Asp162Asn)	rs755873471	0.00002
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.386del (p.Asn129fs)	rs2520273473
NM_000390.4(CHM):c.395A>T (p.Glu132Val)
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.447G>T (p.Met149Ile)	rs746057999
NM_000390.4(CHM):c.453dup (p.Glu152Ter)	rs2520273128
NM_000390.4(CHM):c.469C>T (p.Gln157Ter)	rs1930431885

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