ClinVar Miner

List of variants in gene RTN2 reported as uncertain significance by Genome Diagnostics Laboratory, The Hospital for Sick Children

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005619.5(RTN2):c.1210G>A (p.Val404Met) rs200512597 0.00009
NM_005619.5(RTN2):c.1476C>G (p.Pro492=) rs748824542 0.00004
NM_005619.5(RTN2):c.253C>T (p.Arg85Cys) rs751101450 0.00001
NM_005619.5(RTN2):c.764G>T (p.Cys255Phe) rs775281770 0.00001
NM_005619.5(RTN2):c.1484A>G (p.Tyr495Cys) rs1037969877
NM_005619.5(RTN2):c.653C>T (p.Thr218Ile) rs2122226808
NM_005619.5(RTN2):c.68A>G (p.Asp23Gly) rs2122229330

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