ClinVar Miner

List of variants in gene NF2 reported as uncertain significance for not provided

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_000268.4(NF2):c.1123-6C>T rs147898623 0.00173
NM_000268.4(NF2):c.1340+8G>T rs370604189 0.00029
NM_000268.4(NF2):c.1639G>A (p.Glu547Lys) rs199669486 0.00019
NM_000268.4(NF2):c.107A>G (p.Asn36Ser) rs372279458 0.00014
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155 0.00009
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.170G>A (p.Arg57Gln) rs368773485 0.00003
NM_000268.4(NF2):c.1774T>C (p.Phe592Leu) rs764972504 0.00003
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.1738-19C>A rs958907803 0.00002
NM_000268.4(NF2):c.599+3G>A rs768301915 0.00002
NM_000268.4(NF2):c.916C>G (p.Leu306Val) rs1399716137 0.00002
NM_000268.4(NF2):c.1007G>A (p.Arg336Gln) rs587778554 0.00001
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.1678A>G (p.Ile560Val) rs557347747 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.1767G>A (p.Val589=) rs754168138 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.363+5A>G rs1361659919 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.983A>T (p.Glu328Val) rs200372028 0.00001
GRCh37/hg19 22q12.2(chr22:30056933-30095061)x3
GRCh37/hg19 22q12.2(chr22:30079458-30082255)x1
GRCh37/hg19 22q12.2(chr22:30090741-30090791)x1
NM_000268.4(NF2):c.1001T>A (p.Met334Lys) rs2066798910
NM_000268.4(NF2):c.100_117del (p.Glu34_Met39del) rs2064717929
NM_000268.4(NF2):c.114+4A>G rs1207246677
NM_000268.4(NF2):c.1397G>A (p.Arg466Gln) rs866689896
NM_000268.4(NF2):c.1535C>T (p.Thr512Ile)
NM_000268.4(NF2):c.1557G>A (p.Met519Ile) rs1601659358
NM_000268.4(NF2):c.1714A>C (p.Ser572Arg) rs1379683835
NM_000268.4(NF2):c.1732A>G (p.Lys578Glu) rs2147123687
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.215T>C (p.Val72Ala) rs1260510937
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
NM_000268.4(NF2):c.812T>G (p.Phe271Cys) rs1555997533
NM_000268.4(NF2):c.904G>A (p.Gly302Arg) rs1255367068

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