ClinVar Miner

List of variants in gene NF1 reported as not provided for not provided

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Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.3217A>G (p.Met1073Val) rs199474740 0.00006
NM_001042492.3(NF1):c.2294G>A (p.Arg765His) rs199474777 0.00002
NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys) rs199474739 0.00002
NM_001042492.3(NF1):c.1472A>G (p.Tyr491Cys) rs199474757 0.00001
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg) rs199474730 0.00001
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728 0.00001
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp) rs199474732 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) rs199474766 0.00001
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala) rs199474793 0.00001
NM_001042492.3(NF1):c.1010A>T (p.Glu337Val) rs199474736
NM_001042492.3(NF1):c.1013A>G (p.Asp338Gly) rs199474773
NM_001042492.3(NF1):c.1177C>G (p.His393Asp) rs199474768
NM_001042492.3(NF1):c.1178A>T (p.His393Leu) rs199474769
NM_001042492.3(NF1):c.1342C>T (p.His448Tyr) rs1131691257
NM_001042492.3(NF1):c.1392+1G>T rs267604791
NM_001042492.3(NF1):c.1556A>C (p.Gln519Pro) rs199474770
NM_001042492.3(NF1):c.1595T>C (p.Leu532Pro) rs199474737
NM_001042492.3(NF1):c.1641+1G>A rs1555612866
NM_001042492.3(NF1):c.1646T>C (p.Leu549Pro) rs199474758
NM_001042492.3(NF1):c.1733T>G (p.Leu578Arg) rs199474774
NM_001042492.3(NF1):c.1742T>C (p.Ile581Thr) rs199474759
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.1810T>G (p.Leu604Val) rs142712751
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro) rs199474761
NM_001042492.3(NF1):c.2135A>G (p.His712Arg) rs199474727
NM_001042492.3(NF1):c.221C>A (p.Ala74Asp) rs199474726
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2326G>A (p.Ala776Thr) rs199474771
NM_001042492.3(NF1):c.2330G>C (p.Trp777Ser) rs199474745
NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys) rs199474746
NM_001042492.3(NF1):c.2342A>C (p.His781Pro) rs199474763
NM_001042492.3(NF1):c.2352G>C (p.Trp784Cys) rs199474778
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe) rs199474785
NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro) rs137854566
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu) rs199474748
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.3(NF1):c.2759T>C (p.Leu920Pro) rs199474775
NM_001042492.3(NF1):c.2903T>G (p.Met968Arg) rs199474749
NM_001042492.3(NF1):c.3440T>C (p.Leu1147Pro) rs199474779
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_001042492.3(NF1):c.3497G>A (p.Gly1166Asp) rs199474787
NM_001042492.3(NF1):c.350T>G (p.Ile117Ser) rs199474731
NM_001042492.3(NF1):c.3578T>G (p.Phe1193Cys) rs199474780
NM_001042492.3(NF1):c.3587T>G (p.Leu1196Arg) rs199474741
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001042492.3(NF1):c.3749G>C (p.Arg1250Pro) rs199474765
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe) rs199474789
NM_001042492.3(NF1):c.4318A>C (p.Lys1440Gln) rs199474790
NM_001042492.3(NF1):c.4319A>G (p.Lys1440Arg) rs199474788
NM_001042492.3(NF1):c.4331A>G (p.Lys1444Arg) rs199474781
NM_001042492.3(NF1):c.4332+2T>C rs786204207
NM_001042492.3(NF1):c.4332G>T (p.Lys1444Asn) rs199474750
NM_001042492.3(NF1):c.4337T>C (p.Leu1446Pro) rs199474733
NM_001042492.3(NF1):c.434T>C (p.Leu145Pro) rs199474734
NM_001042492.3(NF1):c.4352A>C (p.Asn1451Thr) rs199474754
NM_001042492.3(NF1):c.4357G>C (p.Val1453Leu) rs199474755
NM_001042492.3(NF1):c.4451C>T (p.Ser1484Phe) rs199474772
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly) rs199474743
NM_001042492.3(NF1):c.470T>A (p.Ile157Asn) rs199474744
NM_001042492.3(NF1):c.479G>C (p.Arg160Thr) rs199474752
NM_001042492.3(NF1):c.5353G>T (p.Ala1785Ser) rs199474782
NM_001042492.3(NF1):c.581T>G (p.Leu194Arg) rs199474753
NM_001042492.3(NF1):c.5854T>C (p.Trp1952Arg) rs199474791
NM_001042492.3(NF1):c.5858T>C (p.Leu1953Pro) rs199474792
NM_001042492.3(NF1):c.6001G>A (p.Gly2001Arg) rs199474751
NM_001042492.3(NF1):c.6024T>C (p.Asp2008=) rs2069668775
NM_001042492.3(NF1):c.6034G>A (p.Asp2012Asn) rs199474783
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro) rs199474756
NM_001042492.3(NF1):c.6661C>G (p.Pro2221Ala) rs199474776
NM_001042492.3(NF1):c.7063-1G>A rs1131691114
NM_001042492.3(NF1):c.7063-2A>G rs1597851255
NM_001042492.3(NF1):c.7069G>A (p.Glu2357Lys) rs199474784
NM_001042492.3(NF1):c.7615+1G>A rs1555536380
NM_001042492.3(NF1):c.92A>G (p.His31Arg) rs199474725
NM_001042492.3(NF1):c.970T>C (p.Cys324Arg) rs199474735
NM_001042492.3(NF1):c.988G>A (p.Ala330Thr) rs199474767

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