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

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.1219C>T (p.His407Tyr)	rs1156614886	0.00001
NM_001042492.3(NF1):c.1063-13G>A	rs1131691066
NM_001042492.3(NF1):c.1070T>G (p.Leu357Arg)	rs137854563
NM_001042492.3(NF1):c.1186-1G>T	rs876660782
NM_001042492.3(NF1):c.1528-1G>A	rs876660595
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn)	rs1555613206
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg)	rs1131691095
NM_001042492.3(NF1):c.2252-1G>C	rs587781577
NM_001042492.3(NF1):c.2252-2A>G	rs1131691105
NM_001042492.3(NF1):c.2288T>G (p.Leu763Arg)	rs199474762
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg)	rs876658853
NM_001042492.3(NF1):c.2509T>A (p.Trp837Arg)	rs587781747
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe)	rs199474785
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)	rs199474747
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)	rs199474786
NM_001042492.3(NF1):c.3198-1G>T	rs1223905930
NM_001042492.3(NF1):c.3502G>C (p.Gly1168Arg)	rs878853883
NM_001042492.3(NF1):c.3942G>A (p.Trp1314Ter)	rs2067194816
NM_001042492.3(NF1):c.4340A>C (p.Gln1447Pro)	rs786204157
NM_001042492.3(NF1):c.4341G>C (p.Gln1447His)	rs876660206
NM_001042492.3(NF1):c.4621del (p.Thr1541fs)	rs1597748749
NM_001042492.3(NF1):c.4725-1G>A	rs1555619391
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu)	rs1131691103
NM_001042492.3(NF1):c.5833del (p.Cys1945fs)	rs1555534379
NM_001042492.3(NF1):c.6685T>C (p.Trp2229Arg)	rs1060500342
NM_001042492.3(NF1):c.6705-3C>G	rs1131691079
NM_001042492.3(NF1):c.6819+3del	rs2069728377
NM_001042492.3(NF1):c.6820-1G>A	rs1060500266
NM_001042492.3(NF1):c.6919_6921del (p.Lys2307del)	rs587782819
NM_001042492.3(NF1):c.7769dup (p.His2590fs)	rs1597866378
NM_001042492.3(NF1):c.889-1G>T	rs587781517

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