ClinVar Miner

List of variants in gene NF2 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000268.4(NF2):c.947T>G (p.Leu316Trp) rs750633919 0.00005
NM_000268.4(NF2):c.1252C>T (p.Arg418Cys) rs765540111 0.00004
NM_000268.4(NF2):c.1012C>T (p.Arg338Cys) rs761795291 0.00002
NM_000268.4(NF2):c.1052G>A (p.Arg351His) rs771675702 0.00002
NM_000268.4(NF2):c.1391C>T (p.Ala464Val) rs776109136 0.00002
NM_000268.4(NF2):c.1699G>A (p.Asp567Asn) rs757586383 0.00002
NM_000268.4(NF2):c.916C>G (p.Leu306Val) rs1399716137 0.00002
NM_000268.4(NF2):c.1453A>T (p.Asn485Tyr) rs1601658875 0.00001
NM_000268.4(NF2):c.1463C>T (p.Pro488Leu) rs1173959854 0.00001
NM_000268.4(NF2):c.1469C>T (p.Pro490Leu) rs765100922 0.00001
NM_000268.4(NF2):c.1502T>C (p.Ile501Thr) rs767682136 0.00001
NM_000268.4(NF2):c.1522G>A (p.Asp508Asn) rs749326764 0.00001
NM_000268.4(NF2):c.1706G>A (p.Gly569Asp) rs781488145 0.00001
NM_000268.4(NF2):c.1765G>A (p.Val589Met) rs1293851600 0.00001
NM_000268.4(NF2):c.182T>C (p.Phe61Ser) rs1286915234 0.00001
NM_000268.4(NF2):c.196T>A (p.Tyr66Asn) rs772274240 0.00001
NM_000268.4(NF2):c.595G>A (p.Ala199Thr) rs1261707371 0.00001
NM_000268.4(NF2):c.713C>T (p.Ala238Val) rs761195572 0.00001
NM_000268.4(NF2):c.1001T>A (p.Met334Lys) rs2066798910
NM_000268.4(NF2):c.114+4A>G rs1207246677
NM_000268.4(NF2):c.1535C>T (p.Thr512Ile)
NM_000268.4(NF2):c.1557G>A (p.Met519Ile) rs1601659358
NM_000268.4(NF2):c.1737+1406T>A
NM_000268.4(NF2):c.1737+1414T>G
NM_000268.4(NF2):c.1737+1419C>T
NM_000268.4(NF2):c.1737+1444T>C
NM_000268.4(NF2):c.1762C>T (p.Arg588Ter) rs1341371726
NM_000268.4(NF2):c.1A>G (p.Met1Val) rs1319282473
NM_000268.4(NF2):c.291G>C (p.Leu97Phe)
NM_000268.4(NF2):c.2T>C (p.Met1Thr) rs1555978325
NM_000268.4(NF2):c.342ACA[1] (p.Gln115del) rs1601583772
NM_000268.4(NF2):c.36C>T (p.Ser12=) rs371800843
NM_000268.4(NF2):c.464C>T (p.Pro155Leu) rs2146966580
NM_000268.4(NF2):c.482G>A (p.Gly161Glu) rs2146966915
NM_000268.4(NF2):c.484T>C (p.Phe162Leu) rs1085307593
NM_000268.4(NF2):c.518TAA[1] (p.Ile174del)
NM_000268.4(NF2):c.560G>A (p.Arg187Lys) rs1234052589
NM_000268.4(NF2):c.574T>A (p.Tyr192Asn)
NM_000268.4(NF2):c.590G>T (p.Gly197Val)
NM_000268.4(NF2):c.652G>T (p.Gly218Cys) rs776818377
NM_000268.4(NF2):c.77T>C (p.Ile26Thr) rs1064795612

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