ClinVar Miner

List of variants reported as not provided for electroclinical syndrome by GenomeConnect - Brain Gene Registry

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr) rs58173258 0.00169
NM_021098.3(CACNA1H):c.2264G>A (p.Gly755Asp) rs142306293 0.00032
NM_021098.3(CACNA1H):c.4327A>G (p.Ile1443Val) rs777667628 0.00004
NM_000814.6(GABRB3):c.1081G>A (p.Val361Met) rs1889329356
NM_000834.5(GRIN2B):c.2438T>C (p.Leu813Pro)
NM_001040142.2(SCN2A):c.208C>G (p.Pro70Ala)
NM_001040142.2(SCN2A):c.2767T>C (p.Trp923Arg) rs1057524573
NM_001040142.2(SCN2A):c.3671_3674dup (p.Ala1226fs)
NM_001040142.2(SCN2A):c.4264A>G (p.Lys1422Glu) rs796053137
NM_001040142.2(SCN2A):c.5272A>C (p.Ser1758Arg) rs1064794005
NM_001040142.2(SCN2A):c.593T>A (p.Val198Asp) rs1697272829
NM_001130438.3(SPTAN1):c.7267_7268delinsAA (p.Ser2423Lys) rs1860016560
NM_001134407.3(GRIN2A):c.1993C>T (p.Leu665Phe)
NM_001134407.3(GRIN2A):c.2788C>G (p.Leu930Val)
NM_001199107.2(TBC1D24):c.1142+272T>C rs2141874790
NM_001199107.2(TBC1D24):c.752del (p.Phe251fs) rs766769998
NM_001271.4(CHD2):c.3702A>C (p.Lys1234Asn)
NM_001330260.2(SCN8A):c.632T>G (p.Val211Gly) rs1592380834
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr) rs1600786349

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