ClinVar Miner

List of variants in gene NF1 reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys) rs377662483 0.00011
NM_001042492.3(NF1):c.4836-3T>C rs372460369 0.00009
NM_001042492.3(NF1):c.5257G>A (p.Val1753Ile) rs148540952 0.00004
NM_001042492.3(NF1):c.6664A>G (p.Thr2222Ala) rs745945481 0.00004
NM_001042492.3(NF1):c.134A>G (p.Asn45Ser) rs753189381 0.00003
NM_001042492.3(NF1):c.2794A>G (p.Met932Val) rs886052800 0.00001
NM_001042492.3(NF1):c.475A>G (p.Thr159Ala) rs371192107 0.00001
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met) rs185660700 0.00001
NM_001042492.3(NF1):c.587-3C>T rs375188075 0.00001
NM_001042492.3(NF1):c.7135G>A (p.Gly2379Arg) rs775476318 0.00001
NM_001042492.3(NF1):c.1139T>G (p.Leu380Arg) rs1555611004
NM_001042492.3(NF1):c.1633G>C (p.Ala545Pro) rs1567843945
NM_001042492.3(NF1):c.2014G>A (p.Gly672Arg) rs786202632
NM_001042492.3(NF1):c.2113_2121dup (p.Met707_Ser708insValAlaMet)
NM_001042492.3(NF1):c.2992T>A (p.Tyr998Asn)
NM_001042492.3(NF1):c.3118A>G (p.Lys1040Glu) rs1555614619
NM_001042492.3(NF1):c.3180T>G (p.Asp1060Glu) rs1555614646
NM_001042492.3(NF1):c.3254T>G (p.Leu1085Arg) rs1555614849
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_001042492.3(NF1):c.3644T>A (p.Met1215Lys)
NM_001042492.3(NF1):c.3668T>G (p.Ile1223Arg) rs1555615091
NM_001042492.3(NF1):c.4243A>C (p.Asn1415His) rs1555618518
NM_001042492.3(NF1):c.454G>A (p.Ala152Thr) rs2065795636
NM_001042492.3(NF1):c.4819TAT[1] (p.Tyr1608del)
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr) rs1567820765
NM_001042492.3(NF1):c.5755G>A (p.Glu1919Lys) rs1227869359
NM_001042492.3(NF1):c.6029T>A (p.Val2010Glu) rs2151553215
NM_001042492.3(NF1):c.6377T>A (p.Val2126Asp) rs1597843145
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro) rs199474756
NM_001042492.3(NF1):c.6623C>G (p.Ala2208Gly) rs1555534886
NM_001042492.3(NF1):c.7334T>G (p.Val2445Gly) rs1567623931
NM_001042492.3(NF1):c.746T>C (p.Leu249Pro) rs1567826623
NM_001042492.3(NF1):c.7970+7A>G rs1597867052
NM_001042492.3(NF1):c.8114-3C>G
NM_001042492.3(NF1):c.965T>C (p.Ile322Thr) rs1417994243
NM_001042492.3(NF1):c.980T>C (p.Leu327Pro) rs201624827

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