List of variants in gene EXOSC2 studied for Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

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

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_014285.7(EXOSC2):c.616T>C (p.Tyr206His)	rs373884838	0.00006
NM_014285.7(EXOSC2):c.260G>A (p.Arg87Gln)	rs139286519
NM_014285.7(EXOSC2):c.593G>A (p.Gly198Asp)	rs756204866
NM_014285.7(EXOSC2):c.611G>A (p.Trp204Ter)
NM_014285.7(EXOSC2):c.673-1G>T	rs1465736368
NM_014285.7(EXOSC2):c.803T>G (p.Ile268Ser)	rs1831267496

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