ClinVar Miner

List of variants studied for neonatal-onset developmental and epileptic encephalopathy by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile) rs35012521 0.00520
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
NM_177550.5(SLC13A5):c.1022G>A (p.Trp341Ter) rs150203483 0.00001
NM_177550.5(SLC13A5):c.1280C>T (p.Ser427Leu) rs548065551 0.00001
NM_177550.5(SLC13A5):c.1460C>T (p.Pro487Leu) rs779336736 0.00001
NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu) rs936922976 0.00001
NM_177550.5(SLC13A5):c.317A>G (p.His106Arg) rs762062274 0.00001
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met) rs761917087 0.00001
GRCh38/hg38 16q23.1(chr16:78099236-78100272)x0
GRCh38/hg38 16q23.1(chr16:78330637-78461650)x0
GRCh38/hg38 17p13.1(chr17:6690682-6696039)x0
GRCh38/hg38 2q31.1(chr2:171833866-171844606)x0
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.5033dup (p.Ile1679fs)
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_004975.4(KCNB1):c.937C>A (p.His313Asn)
NM_015192.4(PLCB1):c.664C>T (p.Arg222Ter) rs990536521
NM_016373.4(WWOX):c.214C>T (p.Gln72Ter) rs201008667
NM_016373.4(WWOX):c.410G>T (p.Gly137Val) rs761879076
NM_024818.6(UBA5):c.907T>C (p.Cys303Arg) rs1553770577
NM_177550.5(SLC13A5):c.135G>A (p.Met45Ile) rs1311732049
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs) rs1211773372
NM_177550.5(SLC13A5):c.1654T>A (p.Phe552Ile) rs1453393447
NM_177550.5(SLC13A5):c.245A>G (p.Tyr82Cys) rs747526311
NM_177550.5(SLC13A5):c.644C>T (p.Ala215Val) rs777563695
NM_177550.5(SLC13A5):c.716+5G>A rs1057518298

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