List of variants in gene OXR1 studied for Congenital cerebellar hypoplasia

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001198533.2(OXR1):c.2340G>A (p.Glu780=)	rs1681904	0.39000
NM_001198533.2(OXR1):c.1100C>G (p.Ser367Ter)	rs1587174071
NM_001198533.2(OXR1):c.1324del (p.Ser442fs)	rs1587174948
NM_001198533.2(OXR1):c.1957-11262G>A
NM_001198533.2(OXR1):c.2163+1G>T	rs1587302415
NM_001198533.2(OXR1):c.2163+5G>A	rs760185933
NM_001198533.2(OXR1):c.2308G>A (p.Asp770Asn)
NM_001198533.2(OXR1):c.2317-1G>C	rs1333855063

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