ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.888+647C>G rs185500742 0.00191
NM_001042492.3(NF1):c.4577+11C>G rs190614908 0.00123
NM_001042492.3(NF1):c.*29A>G rs139147882 0.00096
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_001042492.3(NF1):c.7554C>G (p.Ala2518=) rs141897690 0.00023
NM_001042492.3(NF1):c.5269-9A>G rs544515671 0.00021
NM_001042492.3(NF1):c.2133C>T (p.Arg711=) rs148085908 0.00013
NM_001042492.3(NF1):c.7739-33G>A rs199706010 0.00013
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) rs140994965 0.00012
NM_001042492.3(NF1):c.7322-14C>T rs377244887 0.00009
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=) rs141077224 0.00008
NM_001042492.3(NF1):c.6528T>C (p.Ile2176=) rs147522129 0.00005
NM_001042492.3(NF1):c.4724+12C>T rs747166610 0.00004
NM_001042492.3(NF1):c.1296G>A (p.Val432=) rs371599283 0.00003
NM_001042492.3(NF1):c.3708+19C>T rs371590712 0.00003
NM_001042492.3(NF1):c.6428-3C>T rs374014162 0.00003
NM_001042492.3(NF1):c.6643-19A>G rs544476647 0.00003
NM_001042492.3(NF1):c.7458-7C>T rs758106590 0.00003
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln) rs560262404 0.00003
NM_001042492.3(NF1):c.5812+333T>C rs1027694888 0.00002
NM_001042492.3(NF1):c.3390G>A (p.Arg1130=) rs999720392 0.00001
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) rs565708398 0.00001
NM_001042492.3(NF1):c.1261-30T>G rs1232901516
NM_001042492.3(NF1):c.1429T>C (p.Phe477Leu) rs1555612276
NM_001042492.3(NF1):c.1845+17_1845+18del rs765979407
NM_001042492.3(NF1):c.2085G>A (p.Leu695=) rs1060503889
NM_001042492.3(NF1):c.2251+25dup rs768340418
NM_001042492.3(NF1):c.2514C>T (p.Ile838=) rs863224352

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