ClinVar Miner

List of variants in gene NF1 reported as not provided by UniProtKB/Swiss-Prot

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Gene type:
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Total variants: 73
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HGVS dbSNP
NM_000267.3(NF1):c.1010A>T (p.Glu337Val) rs199474736
NM_000267.3(NF1):c.1013A>G (p.Asp338Gly) rs199474773
NM_000267.3(NF1):c.1177C>G (p.His393Asp) rs199474768
NM_000267.3(NF1):c.1178A>T (p.His393Leu) rs199474769
NM_000267.3(NF1):c.1472A>G (p.Tyr491Cys) rs199474757
NM_000267.3(NF1):c.1556A>C (p.Gln519Pro) rs199474770
NM_000267.3(NF1):c.1595T>C (p.Leu532Pro) rs199474737
NM_000267.3(NF1):c.1646T>C (p.Leu549Pro) rs199474758
NM_000267.3(NF1):c.1733T>G (p.Leu578Arg) rs199474774
NM_000267.3(NF1):c.1742T>C (p.Ile581Thr) rs199474759
NM_000267.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_000267.3(NF1):c.1810T>G (p.Leu604Val) rs142712751
NM_000267.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_000267.3(NF1):c.2084T>C (p.Leu695Pro) rs199474761
NM_000267.3(NF1):c.2135A>G (p.His712Arg) rs199474727
NM_000267.3(NF1):c.221C>A (p.Ala74Asp) rs199474726
NM_000267.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_000267.3(NF1):c.2294G>A (p.Arg765His) rs199474777
NM_000267.3(NF1):c.2326G>A (p.Ala776Thr) rs199474771
NM_000267.3(NF1):c.2330G>C (p.Trp777Ser) rs199474745
NM_000267.3(NF1):c.2339C>A (p.Thr780Lys) rs199474746
NM_000267.3(NF1):c.2342A>C (p.His781Pro) rs199474763
NM_000267.3(NF1):c.2350T>C (p.Trp784Arg) rs199474730
NM_000267.3(NF1):c.2352G>C (p.Trp784Cys) rs199474778
NM_000267.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_000267.3(NF1):c.2530C>T (p.Leu844Phe) rs199474785
NM_000267.3(NF1):c.2531T>C (p.Leu844Pro) rs137854566
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.2543G>A (p.Gly848Glu) rs199474748
NM_000267.3(NF1):c.2617C>T (p.Arg873Cys) rs199474739
NM_000267.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_000267.3(NF1):c.2759T>C (p.Leu920Pro) rs199474775
NM_000267.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728
NM_000267.3(NF1):c.2903T>G (p.Met968Arg) rs199474749
NM_000267.3(NF1):c.3217A>G (p.Met1073Val) rs199474740
NM_000267.3(NF1):c.3440T>C (p.Leu1147Pro) rs199474779
NM_000267.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_000267.3(NF1):c.3497G>A (p.Gly1166Asp) rs199474787
NM_000267.3(NF1):c.350T>G (p.Ile117Ser) rs199474731
NM_000267.3(NF1):c.3578T>G (p.Phe1193Cys) rs199474780
NM_000267.3(NF1):c.3587T>G (p.Leu1196Arg) rs199474741
NM_000267.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_000267.3(NF1):c.3610C>T (p.Arg1204Trp) rs199474732
NM_000267.3(NF1):c.3749G>C (p.Arg1250Pro) rs199474765
NM_000267.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_000267.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556
NM_000267.3(NF1):c.4168C>T (p.Leu1390Phe) rs199474789
NM_000267.3(NF1):c.4255A>C (p.Lys1419Gln) rs199474790
NM_000267.3(NF1):c.4256A>G (p.Lys1419Arg) rs199474788
NM_000267.3(NF1):c.4268A>G (p.Lys1423Arg) rs199474781
NM_000267.3(NF1):c.4269G>T (p.Lys1423Asn) rs199474750
NM_000267.3(NF1):c.4274T>C (p.Leu1425Pro) rs199474733
NM_000267.3(NF1):c.4289A>C (p.Asn1430Thr) rs199474754
NM_000267.3(NF1):c.4294G>C (p.Val1432Leu) rs199474755
NM_000267.3(NF1):c.434T>C (p.Leu145Pro) rs199474734
NM_000267.3(NF1):c.4388C>T (p.Ser1463Phe) rs199474772
NM_000267.3(NF1):c.4402A>G (p.Ser1468Gly) rs199474743
NM_000267.3(NF1):c.470T>A (p.Ile157Asn) rs199474744
NM_000267.3(NF1):c.4750A>G (p.Ile1584Val) rs199474766
NM_000267.3(NF1):c.479G>C (p.Arg160Thr) rs199474752
NM_000267.3(NF1):c.5290G>T (p.Ala1764Ser) rs199474782
NM_000267.3(NF1):c.5791T>C (p.Trp1931Arg) rs199474791
NM_000267.3(NF1):c.5795T>C (p.Leu1932Pro) rs199474792
NM_000267.3(NF1):c.581T>G (p.Leu194Arg) rs199474753
NM_000267.3(NF1):c.5938G>A (p.Gly1980Arg) rs199474751
NM_000267.3(NF1):c.5971G>A (p.Asp1991Asn) rs199474783
NM_000267.3(NF1):c.647T>C (p.Leu216Pro) rs199474756
NM_000267.3(NF1):c.6598C>G (p.Pro2200Ala) rs199474776
NM_000267.3(NF1):c.7006G>A (p.Glu2336Lys) rs199474784
NM_000267.3(NF1):c.7828A>G (p.Thr2610Ala) rs199474793
NM_000267.3(NF1):c.92A>G (p.His31Arg) rs199474725
NM_000267.3(NF1):c.970T>C (p.Cys324Arg) rs199474735
NM_000267.3(NF1):c.988G>A (p.Ala330Thr) rs199474767

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