List of variants in gene OCRL studied for Inborn genetic diseases

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000276.4(OCRL):c.350-5T>C	rs200744251	0.00014
NM_000276.4(OCRL):c.1184C>T (p.Ala395Val)	rs145139567	0.00013
NM_000276.4(OCRL):c.50G>C (p.Gly17Ala)	rs768913997	0.00005
NM_000276.4(OCRL):c.2066G>A (p.Arg689His)	rs748186190	0.00002
NM_000276.4(OCRL):c.101A>G (p.Gln34Arg)
NM_000276.4(OCRL):c.109G>A (p.Gly37Arg)	rs767054196
NM_000276.4(OCRL):c.1541G>A (p.Arg514Gln)
NM_000276.4(OCRL):c.1585G>T (p.Ala529Ser)
NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter)	rs1182741031
NM_000276.4(OCRL):c.166A>G (p.Ile56Val)
NM_000276.4(OCRL):c.1718T>C (p.Val573Ala)
NM_000276.4(OCRL):c.2070G>C (p.Met690Ile)
NM_000276.4(OCRL):c.2204C>A (p.Pro735His)
NM_000276.4(OCRL):c.2323A>G (p.Ser775Gly)

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