ClinVar Miner

List of variants studied for leukoencephalopathy with vanishing white matter 1 by Natera, Inc.

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_003907.3(EIF2B5):c.1759A>G (p.Ile587Val) rs843358 0.32719
NM_003907.3(EIF2B5):c.1686G>A (p.Gln562=) rs114216498 0.00220
NM_003907.3(EIF2B5):c.1934C>T (p.Ala645Val) rs150130018 0.00133
NM_003907.3(EIF2B5):c.1870-5C>A rs144864475 0.00084
NM_003907.3(EIF2B5):c.320+9C>T rs116835002 0.00076
NM_003907.3(EIF2B5):c.1167G>A (p.Val389=) rs112278360 0.00064
NM_003907.3(EIF2B5):c.1608G>C (p.Glu536Asp) rs111933069 0.00062
NM_003907.3(EIF2B5):c.1956C>T (p.Phe652=) rs149264256 0.00056
NM_003907.3(EIF2B5):c.966C>G (p.Thr322=) rs145535476 0.00035
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His) rs113994049 0.00027
NM_003907.3(EIF2B5):c.1920C>T (p.Ala640=) rs149329097 0.00013
NM_003907.3(EIF2B5):c.196-9A>C rs374801184 0.00011
NM_003907.3(EIF2B5):c.840G>A (p.Glu280=) rs138820746 0.00010
NM_003907.3(EIF2B5):c.858G>C (p.Gln286His) rs374608159 0.00006
NM_003907.3(EIF2B5):c.936C>T (p.Asp312=) rs371452981 0.00006
NM_003907.3(EIF2B5):c.1015C>T (p.Arg339Trp) rs113994068 0.00005
NM_003907.3(EIF2B5):c.1044C>T (p.Val348=) rs149507492 0.00004
NM_003907.3(EIF2B5):c.241G>A (p.Glu81Lys) rs113994047 0.00004
NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala) rs28939717 0.00004
NM_003907.3(EIF2B5):c.453G>A (p.Val151=) rs376258328 0.00004
NM_003907.3(EIF2B5):c.1914C>T (p.Arg638=) rs751446315 0.00003
NM_003907.3(EIF2B5):c.944G>A (p.Arg315His) rs113994064 0.00003
NM_003907.3(EIF2B5):c.1209G>A (p.Ala403=) rs143448763 0.00002
NM_003907.3(EIF2B5):c.1451A>G (p.Asn484Ser) rs760027991 0.00002
NM_003907.3(EIF2B5):c.900C>T (p.Val300=) rs778914998 0.00002
NM_003907.3(EIF2B5):c.1143C>T (p.Pro381=) rs748745866 0.00001
NM_003907.3(EIF2B5):c.1208C>T (p.Ala403Val) rs545593935 0.00001
NM_003907.3(EIF2B5):c.1280C>T (p.Pro427Leu) rs113994078 0.00001
NM_003907.3(EIF2B5):c.1329G>A (p.Leu443=) rs531966163 0.00001
NM_003907.3(EIF2B5):c.1722C>T (p.Leu574=) rs775332719 0.00001
NM_003907.3(EIF2B5):c.1830C>T (p.Ser610=) rs1455535271 0.00001
NM_003907.3(EIF2B5):c.337C>T (p.Arg113Cys) rs113994050 0.00001
NM_003907.3(EIF2B5):c.584G>A (p.Arg195His) rs113994054 0.00001
NM_003907.3(EIF2B5):c.600T>C (p.Asn200=) rs757699338 0.00001
NM_003907.3(EIF2B5):c.1016G>C (p.Arg339Pro) rs113994069
NM_003907.3(EIF2B5):c.1340C>T (p.Ser447Leu) rs113994080
NM_003907.3(EIF2B5):c.1946T>C (p.Ile649Thr) rs1064794256
NM_003907.3(EIF2B5):c.407G>A (p.Arg136His) rs958193703
NM_003907.3(EIF2B5):c.613G>A (p.Val205Met) rs1057520047
NM_003907.3(EIF2B5):c.896G>A (p.Arg299His) rs113994060

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