ClinVar Miner

List of variants in gene NF2 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000268.4(NF2):c.364-39A>C rs2530664 0.14175
NM_000268.4(NF2):c.448-17C>T rs190596693 0.00215
NM_000268.4(NF2):c.*4G>A rs141099051 0.00165
NM_000268.4(NF2):c.12C>T (p.Ala4=) rs144477078 0.00115
NM_000268.4(NF2):c.1386C>T (p.Arg462=) rs138354622 0.00086
NM_000268.4(NF2):c.1451T>C (p.Met484Thr) rs141538143 0.00082
NM_000268.4(NF2):c.1416C>T (p.Leu472=) rs148776784 0.00081
NM_000268.4(NF2):c.1737+2098A>G rs75296199 0.00053
NM_000268.4(NF2):c.-18G>A rs201591536 0.00026
NM_000268.4(NF2):c.246G>A (p.Leu82=) rs371270318 0.00021
NM_000268.4(NF2):c.107A>G (p.Asn36Ser) rs372279458 0.00014
NM_000268.4(NF2):c.240+15C>T rs200701337 0.00014
NM_000268.4(NF2):c.465C>T (p.Pro155=) rs374911526 0.00011
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155 0.00009
NM_000268.4(NF2):c.879T>C (p.Asn293=) rs151198477 0.00009
NM_000268.4(NF2):c.1392G>A (p.Ala464=) rs375819833 0.00006
NM_000268.4(NF2):c.1698C>T (p.Ser566=) rs751987156 0.00005
NM_000268.4(NF2):c.1248G>A (p.Ala416=) rs759993776 0.00004
NM_000268.4(NF2):c.1575-5G>A rs199622889 0.00004
NM_000268.4(NF2):c.459C>T (p.Tyr153=) rs142972020 0.00004
NM_000268.4(NF2):c.1774T>C (p.Phe592Leu) rs764972504 0.00003
NM_000268.4(NF2):c.783C>T (p.Ile261=) rs765223726 0.00003
NM_000268.4(NF2):c.810+8_810+9del rs760095910 0.00003
NM_000268.4(NF2):c.599+3G>A rs768301915 0.00002
NM_000268.4(NF2):c.1056G>A (p.Thr352=) rs145427713 0.00001
NM_000268.4(NF2):c.1273C>T (p.Leu425=) rs142446775 0.00001
NM_000268.4(NF2):c.1311A>G (p.Ala437=) rs144628209 0.00001
NM_000268.4(NF2):c.543G>A (p.Pro181=) rs139838280 0.00001
NM_000268.4(NF2):c.903C>T (p.Ile301=) rs199957176 0.00001
NM_000268.4(NF2):c.115-6T>C rs2146851312
NM_000268.4(NF2):c.1258GAG[2] (p.Glu422del) rs2066863778
NM_000268.4(NF2):c.1470G>A (p.Pro490=) rs373442542
NM_000268.4(NF2):c.1661G>A (p.Arg554Lys) rs2067134618
NM_000268.4(NF2):c.1737+1457C>T
NM_000268.4(NF2):c.240+1G>A rs587776562
NM_000268.4(NF2):c.431dup (p.Tyr144Ter) rs2065831369
NM_000268.4(NF2):c.810+21A>G

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