ClinVar Miner

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

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Total variants: 8
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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.89G>T (p.Gly30Val) rs537467155 0.00006
NM_014285.7(EXOSC2):c.801+1G>A rs780641666 0.00004
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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