ClinVar Miner

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

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Gene type:
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Total variants: 65
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HGVS dbSNP
NM_000267.3(NF1):c.1017_1018CT[1] (p.Ser340fs) rs1555610903
NM_000267.3(NF1):c.1062+3A>G rs1057521098
NM_000267.3(NF1):c.1063-2A>G rs1060500358
NM_000267.3(NF1):c.1070T>G (p.Leu357Arg) rs137854563
NM_000267.3(NF1):c.1527+1G>A rs1060500331
NM_000267.3(NF1):c.1527+5G>T rs1060500352
NM_000267.3(NF1):c.1646T>C (p.Leu549Pro) rs199474758
NM_000267.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_000267.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_000267.3(NF1):c.1721G>T (p.Ser574Ile) rs1555613206
NM_000267.3(NF1):c.1722-1G>A rs1567845818
NM_000267.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_000267.3(NF1):c.1801_1803del (p.Arg601del) rs1555613421
NM_000267.3(NF1):c.1845G>T (p.Lys615Asn) rs1131691080
NM_000267.3(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
NM_000267.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_000267.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_000267.3(NF1):c.2389del (p.Ala797fs) rs1555614016
NM_000267.3(NF1):c.2509T>C (p.Trp837Arg) rs587781747
NM_000267.3(NF1):c.2693_2695TGT[1] (p.Leu899del) rs1064796946
NM_000267.3(NF1):c.277T>C (p.Cys93Arg) rs1555605398
NM_000267.3(NF1):c.2791_2800del (p.Pro931fs) rs1064795730
NM_000267.3(NF1):c.281T>G (p.Leu94Arg)
NM_000267.3(NF1):c.2850+1G>T rs1131691122
NM_000267.3(NF1):c.2975T>A (p.Met992Lys) rs1567849596
NM_000267.3(NF1):c.2978T>G (p.Leu993Ter) rs1555614460
NM_000267.3(NF1):c.2991G>T (p.Arg997Ser) rs755501749
NM_000267.3(NF1):c.3002T>A (p.Val1001Glu) rs1131691844
NM_000267.3(NF1):c.3114-2A>G rs1428885377
NM_000267.3(NF1):c.3197+1G>A rs1555614653
NM_000267.3(NF1):c.3197G>A (p.Arg1066Lys) rs1555614652
NM_000267.3(NF1):c.3239T>C (p.Leu1080Pro) rs1555614833
NM_000267.3(NF1):c.3299_3300CA[1] (p.Gln1101fs) rs1555614866
NM_000267.3(NF1):c.3447G>A (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.3461A>T (p.Asn1154Ile) rs371544233
NM_000267.3(NF1):c.3611G>T (p.Arg1204Leu) rs1057521848
NM_000267.3(NF1):c.3706T>C (p.Trp1236Arg) rs1555615111
NM_000267.3(NF1):c.3728T>C (p.Leu1243Pro) rs137854564
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.4269G>A (p.Lys1423=) rs199474750
NM_000267.3(NF1):c.4342A>T (p.Lys1448Ter) rs1567862353
NM_000267.3(NF1):c.4343_4355del (p.Lys1448fs) rs1567862349
NM_000267.3(NF1):c.4515-1G>C rs1555618999
NM_000267.3(NF1):c.4728dup (p.Thr1577fs) rs1253123816
NM_000267.3(NF1):c.4772+1G>T rs1085307819
NM_000267.3(NF1):c.4967_4972TCTATA[1] (p.Ile1658_Tyr1659del) rs1135402868
NM_000267.3(NF1):c.5184dup (p.Asp1729fs) rs1555533409
NM_000267.3(NF1):c.5248A>G (p.Lys1750Glu) rs1131691103
NM_000267.3(NF1):c.5425C>G (p.Arg1809Gly) rs797045139
NM_000267.3(NF1):c.5453del (p.Ile1818fs)
NM_000267.3(NF1):c.5547-1G>C rs1567613569
NM_000267.3(NF1):c.5589T>A (p.Phe1863Leu) rs1567613616
NM_000267.3(NF1):c.586delinsTTAA (p.Glu196delinsLeuLys) rs1555607123
NM_000267.3(NF1):c.5944-1G>C rs1555534596
NM_000267.3(NF1):c.61-7486G>T
NM_000267.3(NF1):c.6287_6290del (p.Ser2096fs) rs1064795492
NM_000267.3(NF1):c.660_665del (p.Asn222_Trp223del) rs1064796137
NM_000267.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_000267.3(NF1):c.6801A>G (p.Gln2267=) rs1064794756
NM_000267.3(NF1):c.7090_7095AACTTT[1] (p.2364_2365NF[1]) rs864622639
NM_000267.3(NF1):c.7256_7258delCAG rs1085307506
NM_000267.3(NF1):c.7514dup (p.Met2505fs) rs1555536367
NM_000267.3(NF1):c.7907+5G>T rs1567627286
NM_000267.3(NF1):c.79C>T (p.Gln27Ter) rs1060500363

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