ClinVar Miner

List of variants in gene NF1 reported as pathogenic for Hereditary cancer-predisposing syndrome

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Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.5812+332A>G rs863224491 0.00001
NM_000267.3(NF1):c.7901_7902ins11 (p.?)
NM_001042492.3(NF1):c.1218del (p.His407fs) rs1131691106
NM_001042492.3(NF1):c.1255del (p.Thr419fs) rs1555611105
NM_001042492.3(NF1):c.1260+1604A>G rs1131691067
NM_001042492.3(NF1):c.1278G>A (p.Trp426Ter) rs1131691085
NM_001042492.3(NF1):c.1299T>A (p.Tyr433Ter) rs876660099
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_001042492.3(NF1):c.154del (p.Ser52fs) rs1131691109
NM_001042492.3(NF1):c.1551_1564del (p.Glu517fs) rs1131691068
NM_001042492.3(NF1):c.1584del (p.Leu529fs) rs876658693
NM_001042492.3(NF1):c.1714del (p.Glu572fs) rs876660135
NM_001042492.3(NF1):c.1721+1G>T rs1131691096
NM_001042492.3(NF1):c.1721+3A>G rs1057518904
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1845G>T (p.Lys615Asn) rs1131691080
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.1961del (p.Pro654fs) rs1131691108
NM_001042492.3(NF1):c.2033del (p.Pro678fs) rs587781807
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.2088G>A (p.Trp696Ter) rs1131691099
NM_001042492.3(NF1):c.2178del (p.Ser727fs) rs786202954
NM_001042492.3(NF1):c.2237del (p.Asn746fs) rs1555613838
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2338dup (p.Thr780fs) rs1567848129
NM_001042492.3(NF1):c.2409+2T>G rs876660826
NM_001042492.3(NF1):c.2455del (p.His819fs) rs1567848761
NM_001042492.3(NF1):c.2483del (p.Leu828fs) rs1131691069
NM_001042492.3(NF1):c.2589T>G (p.Tyr863Ter) rs587782814
NM_001042492.3(NF1):c.2589_2592del (p.Ser864fs) rs876658207
NM_001042492.3(NF1):c.2622_2623insA (p.Gly875fs) rs587781933
NM_001042492.3(NF1):c.2709G>A (p.Val903=) rs771820789
NM_001042492.3(NF1):c.2753del (p.Lys918fs) rs1131691078
NM_001042492.3(NF1):c.2887C>T (p.Gln963Ter) rs876660444
NM_001042492.3(NF1):c.2952del (p.Gln985fs) rs1555614453
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.2991-1G>A rs1060500273
NM_001042492.3(NF1):c.3097C>T (p.Gln1033Ter) rs1131691104
NM_001042492.3(NF1):c.3113+1G>A rs267606599
NM_001042492.3(NF1):c.3113+2T>G rs876658997
NM_001042492.3(NF1):c.3198-2A>G rs1131691089
NM_001042492.3(NF1):c.3208C>T (p.Gln1070Ter) rs786202023
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3514del (p.Asp1172fs) rs876660580
NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_001042492.3(NF1):c.3790G>A (p.Glu1264Lys) rs863224660
NM_001042492.3(NF1):c.3821dup (p.Phe1275fs) rs786203614
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.3870+1G>A rs1131691075
NM_001042492.3(NF1):c.3871-2A>G rs1131691077
NM_001042492.3(NF1):c.3902_3903insTTATTACGAATTG (p.Asp1302fs) rs786203500
NM_001042492.3(NF1):c.3941G>A (p.Trp1314Ter) rs876658235
NM_001042492.3(NF1):c.4064C>G (p.Ser1355Ter) rs1131691087
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter) rs1131691072
NM_001042492.3(NF1):c.4266dup (p.Glu1423Ter) rs876659964
NM_001042492.3(NF1):c.4627del (p.Ala1544fs) rs1131691088
NM_001042492.3(NF1):c.4635C>A (p.Tyr1545Ter) rs754023358
NM_001042492.3(NF1):c.4765del (p.Thr1589fs) rs1131691098
NM_001042492.3(NF1):c.4819dup (p.Tyr1607fs) rs876658492
NM_001042492.3(NF1):c.4892T>A (p.Leu1631Ter)
NM_001042492.3(NF1):c.4904_4905insAAT (p.Tyr1635Ter) rs587781780
NM_001042492.3(NF1):c.4977_4980del (p.Lys1661fs) rs1085307459
NM_001042492.3(NF1):c.5023_5024del (p.Ser1675fs) rs876660286
NM_001042492.3(NF1):c.5269-1G>A rs876660141
NM_001042492.3(NF1):c.5469dup (p.Ile1824fs) rs267606605
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.560del (p.Cys187fs) rs1555607107
NM_001042492.3(NF1):c.5625_5630delinsG (p.Asn1875fs) rs1131691081
NM_001042492.3(NF1):c.5730dup (p.Ile1911fs) rs876660212
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter) rs786203896
NM_001042492.3(NF1):c.5812+1G>A rs876658854
NM_001042492.3(NF1):c.5839G>T (p.Glu1947Ter) rs587782088
NM_001042492.3(NF1):c.5854T>C (p.Trp1952Arg) rs199474791
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.5907_5908del (p.Arg1970fs) rs863224835
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter) rs876660696
NM_001042492.3(NF1):c.61-2A>T rs1131691100
NM_001042492.3(NF1):c.6147+1G>A rs1060500296
NM_001042492.3(NF1):c.625C>T (p.Gln209Ter) rs786203448
NM_001042492.3(NF1):c.629T>G (p.Leu210Ter) rs876658570
NM_001042492.3(NF1):c.6306_6307insT (p.Leu2103fs) rs876659471
NM_001042492.3(NF1):c.6358_6359insTTTAA (p.Ala2120delinsValTer) rs1131691133
NM_001042492.3(NF1):c.6520_6538del (p.Ala2174fs) rs786203806
NM_001042492.3(NF1):c.6525_6537del (p.Ile2176fs) rs1131691071
NM_001042492.3(NF1):c.653dup (p.Ala219fs) rs1131691094
NM_001042492.3(NF1):c.6557C>G (p.Ser2186Ter) rs1131691091
NM_001042492.3(NF1):c.6569_6570del (p.Gly2190fs) rs1131691076
NM_001042492.3(NF1):c.6583_6586del (p.Glu2195fs) rs1131691084
NM_001042492.3(NF1):c.669G>A (p.Trp223Ter) rs1057517967
NM_001042492.3(NF1):c.6715C>T (p.Gln2239Ter) rs1131691093
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter) rs1131691073
NM_001042492.3(NF1):c.7028_7031del (p.His2343fs) rs1131691083
NM_001042492.3(NF1):c.705C>G (p.Tyr235Ter) rs769048538
NM_001042492.3(NF1):c.7102del (p.Glu2368fs) rs1131691082
NM_001042492.3(NF1):c.7110_7111del (p.His2370fs) rs1555535416
NM_001042492.3(NF1):c.7195del (p.Arg2399fs) rs1131691102
NM_001042492.3(NF1):c.7234del (p.Ile2412fs) rs876658245
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.3(NF1):c.7392del (p.Asp2465fs) rs786202180
NM_001042492.3(NF1):c.7422dup (p.Thr2475fs) rs1131691107
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7760C>G (p.Ser2587Ter) rs1131691090
NM_001042492.3(NF1):c.7869+1G>A rs1329683225
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.8009C>A (p.Ser2670Ter) rs1131691074
NM_001042492.3(NF1):c.8059_8060del (p.Ser2687fs) rs1060500387
NM_001042492.3(NF1):c.8095C>T (p.Gln2699Ter) rs786203443
NM_001042492.3(NF1):c.82C>T (p.Gln28Ter) rs771764281
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001042492.3(NF1):c.955dup (p.Ser319fs) rs876660931

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