ClinVar Miner

List of variants in gene SNRNP200 reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_014014.5(SNRNP200):c.1484C>T (p.Thr495Met) rs139286118 0.00019
NM_014014.5(SNRNP200):c.4678A>G (p.Ile1560Val) rs78715863 0.00018
NM_014014.5(SNRNP200):c.2716G>A (p.Val906Met) rs769979612 0.00004
NM_014014.5(SNRNP200):c.1148G>A (p.Arg383His) rs536493402 0.00001
NM_014014.5(SNRNP200):c.1315C>T (p.Arg439Cys) rs199661848 0.00001
NM_014014.5(SNRNP200):c.1577A>G (p.Asn526Ser) rs1437130482 0.00001
NM_014014.5(SNRNP200):c.1204G>A (p.Ala402Thr)
NM_014014.5(SNRNP200):c.1292C>T (p.Pro431Leu)
NM_014014.5(SNRNP200):c.1585G>A (p.Gly529Ser)
NM_014014.5(SNRNP200):c.1595A>G (p.Asn532Ser)
NM_014014.5(SNRNP200):c.1967C>T (p.Pro656Leu) rs2063895642
NM_014014.5(SNRNP200):c.2002G>A (p.Asp668Asn) rs769109429
NM_014014.5(SNRNP200):c.2471A>G (p.His824Arg)
NM_014014.5(SNRNP200):c.2858G>A (p.Arg953Gln)
NM_014014.5(SNRNP200):c.2951T>C (p.Leu984Pro)
NM_014014.5(SNRNP200):c.2966G>A (p.Ser989Asn)
NM_014014.5(SNRNP200):c.325A>C (p.Thr109Pro)
NM_014014.5(SNRNP200):c.3475A>G (p.Asn1159Asp) rs755662756
NM_014014.5(SNRNP200):c.3941A>G (p.Asn1314Ser)
NM_014014.5(SNRNP200):c.4420A>G (p.Met1474Val) rs929059645
NM_014014.5(SNRNP200):c.4730T>G (p.Leu1577Arg)
NM_014014.5(SNRNP200):c.5009A>G (p.Asn1670Ser)
NM_014014.5(SNRNP200):c.5918G>A (p.Arg1973His)
NM_014014.5(SNRNP200):c.5962A>G (p.Met1988Val)
NM_014014.5(SNRNP200):c.5984C>T (p.Ala1995Val)
NM_014014.5(SNRNP200):c.6314C>T (p.Thr2105Ile)
NM_014014.5(SNRNP200):c.709C>T (p.Arg237Cys)
NM_014014.5(SNRNP200):c.97C>T (p.Arg33Trp)
NM_014014.5(SNRNP200):c.995C>G (p.Thr332Ser)

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