ClinVar Miner

List of variants reported as likely pathogenic for Landau-Kleffner syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NC_000016.9:g.(?_9892114)_(10032428_?)dup
NC_000016.9:g.(?_9916101)_(9943838_?)dup
NC_000016.9:g.(?_9943593)_(10032428_?)dup
NM_001134407.3(GRIN2A):c.1008-2A>G rs2043686667
NM_001134407.3(GRIN2A):c.1328+2T>C rs2042847630
NM_001134407.3(GRIN2A):c.1329-1G>C
NM_001134407.3(GRIN2A):c.1329-2A>C rs2141346217
NM_001134407.3(GRIN2A):c.1382T>A (p.Ile461Asn) rs1567337914
NM_001134407.3(GRIN2A):c.1630G>A (p.Val544Ile) rs2141342055
NM_001134407.3(GRIN2A):c.1652-2A>G rs2141325752
NM_001134407.3(GRIN2A):c.1777+1G>C rs2141325180
NM_001134407.3(GRIN2A):c.1777+2T>C rs2141325169
NM_001134407.3(GRIN2A):c.1842T>G (p.Asn614Lys)
NM_001134407.3(GRIN2A):c.1904C>A (p.Ala635Asp) rs2042448930
NM_001134407.3(GRIN2A):c.1912G>A (p.Ala638Thr)
NM_001134407.3(GRIN2A):c.2007+1G>T
NM_001134407.3(GRIN2A):c.2075_2116dup (p.Arg692_Met705dup) rs2141294782
NM_001134407.3(GRIN2A):c.2147C>A (p.Ala716Asp) rs1057519552
NM_001134407.3(GRIN2A):c.2147C>T (p.Ala716Val)
NM_001134407.3(GRIN2A):c.2314A>G (p.Lys772Glu) rs1555488094
NM_001134407.3(GRIN2A):c.2326G>A (p.Asp776Asn)
NM_001134407.3(GRIN2A):c.2356+1G>T rs2141230207
NM_001134407.3(GRIN2A):c.2357-2A>T
NM_001134407.3(GRIN2A):c.2365GAG[1] (p.Glu790del)
NM_001134407.3(GRIN2A):c.236C>G (p.Pro79Arg) rs1250662891
NM_001134407.3(GRIN2A):c.255_256insCTCATGTCCGGG (p.His85_Val86insLeuMetSerGly) rs2142389389
NM_001134407.3(GRIN2A):c.2658T>A (p.Asn886Lys) rs1321794341
NM_001134407.3(GRIN2A):c.292C>T (p.Leu98Phe) rs1596586969
NM_001134407.3(GRIN2A):c.4067C>G (p.Ser1356Cys)
NM_001134407.3(GRIN2A):c.414+2T>G
NM_001134407.3(GRIN2A):c.415-2A>G rs2141633312

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