ClinVar Miner

List of variants studied for neonatal-onset developmental and epileptic encephalopathy by Revvity Omics, Revvity

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_003705.5(SLC25A12):c.1654G>A (p.Ala552Thr) rs142912356 0.00049
NM_004171.4(SLC1A2):c.344G>A (p.Arg115His) rs200754925 0.00006
NM_004975.4(KCNB1):c.2092C>T (p.Arg698Trp) rs779379680 0.00004
NM_015192.4(PLCB1):c.2564C>T (p.Ala855Val) rs201764744 0.00004
NM_015509.4(NECAP1):c.136C>T (p.Arg46Cys) rs202044480 0.00003
NM_004975.4(KCNB1):c.1724G>A (p.Arg575His) rs544069848 0.00002
NM_004975.4(KCNB1):c.2009G>A (p.Arg670Gln) rs753575587 0.00002
NM_015192.4(PLCB1):c.3059G>A (p.Arg1020Gln) rs758283980 0.00002
NM_000812.4(GABRB1):c.1142C>T (p.Ser381Leu) rs539587921 0.00001
NM_000836.4(GRIN2D):c.1855G>A (p.Gly619Ser) rs141530315 0.00001
NM_000836.4(GRIN2D):c.3523C>G (p.Pro1175Ala) rs1971333907 0.00001
NM_004171.4(SLC1A2):c.1225G>A (p.Ala409Thr) rs1022532582 0.00001
NM_004974.4(KCNA2):c.1256G>A (p.Arg419Gln) rs1296710118 0.00001
NM_004974.4(KCNA2):c.511A>G (p.Met171Val) rs773468235 0.00001
NM_004975.4(KCNB1):c.2323C>G (p.Pro775Ala) rs142461221 0.00001
NM_020708.5(SLC12A5):c.3131A>T (p.Gln1044Leu) rs529949253 0.00001
NM_177550.5(SLC13A5):c.292G>A (p.Val98Met) rs529524270 0.00001
NM_000812.4(GABRB1):c.307C>T (p.Pro103Ser) rs775749394
NM_000812.4(GABRB1):c.618C>T (p.Ile206=)
NM_000836.4(GRIN2D):c.2777C>T (p.Ala926Val)
NM_000836.4(GRIN2D):c.2867G>T (p.Gly956Val)
NM_000836.4(GRIN2D):c.3025G>T (p.Ala1009Ser)
NM_000836.4(GRIN2D):c.3220C>A (p.Pro1074Thr)
NM_000836.4(GRIN2D):c.3431G>C (p.Arg1144Pro)
NM_000836.4(GRIN2D):c.3910G>A (p.Gly1304Arg)
NM_000836.4(GRIN2D):c.3947G>T (p.Arg1316Leu) rs544435291
NM_000836.4(GRIN2D):c.49CTG[5] (p.Leu20dup) rs919633142
NM_004113.6(FGF12):c.118G>C (p.Asp40His)
NM_004113.6(FGF12):c.14-47562G>A
NM_004113.6(FGF12):c.142C>T (p.Pro48Ser)
NM_004171.4(SLC1A2):c.1154_1155del (p.Val385fs)
NM_004171.4(SLC1A2):c.1601C>A (p.Ser534Tyr)
NM_004171.4(SLC1A2):c.1639G>A (p.Val547Ile)
NM_004171.4(SLC1A2):c.1715G>A (p.Arg572His)
NM_004171.4(SLC1A2):c.236C>A (p.Ala79Asp)
NM_004171.4(SLC1A2):c.260G>A (p.Arg87Lys)
NM_004171.4(SLC1A2):c.456G>C (p.Gln152His)
NM_004171.4(SLC1A2):c.469A>G (p.Lys157Glu) rs1851730752
NM_004171.4(SLC1A2):c.626G>A (p.Ser209Asn)
NM_004171.4(SLC1A2):c.777G>A (p.Met259Ile)
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_004975.4(KCNB1):c.1543G>A (p.Ala515Thr)
NM_004975.4(KCNB1):c.2129G>A (p.Cys710Tyr)
NM_004975.4(KCNB1):c.70G>A (p.Val24Met) rs778774389
NM_004975.4(KCNB1):c.917G>A (p.Arg306His) rs1984262011
NM_015192.4(PLCB1):c.1232T>C (p.Phe411Ser)
NM_015192.4(PLCB1):c.3394C>T (p.Arg1132Cys)
NM_015192.4(PLCB1):c.437T>C (p.Met146Thr)
NM_020708.5(SLC12A5):c.1846T>C (p.Tyr616His)
NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala) rs201268862
NM_020708.5(SLC12A5):c.266del (p.Lys89fs) rs2084489672
NM_020708.5(SLC12A5):c.2812C>T (p.Arg938Ter)
NM_020708.5(SLC12A5):c.2888G>A (p.Ser963Asn)
NM_020708.5(SLC12A5):c.855-66G>A
NM_177550.5(SLC13A5):c.1159A>G (p.Arg387Gly)
NM_177550.5(SLC13A5):c.1654T>A (p.Phe552Ile) rs1453393447
NM_177550.5(SLC13A5):c.454G>A (p.Val152Met)
NM_177550.5(SLC13A5):c.601C>T (p.Arg201Trp) rs142320179

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