ClinVar Miner

List of variants reported as benign for benign neonatal seizures by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_004519.4(KCNQ3):c.1071C>G (p.Leu357=) rs17575754 0.05655
NM_004519.4(KCNQ3):c.732T>C (p.Gly244=) rs41272387 0.05313
NM_004519.4(KCNQ3):c.660T>C (p.Asn220=) rs41272389 0.05312
NM_004519.4(KCNQ3):c.1241A>G (p.Glu414Gly) rs2303995 0.02242
NM_004519.4(KCNQ3):c.1700+3G>A rs115092422 0.01419
NM_004519.4(KCNQ3):c.1059C>T (p.Ser353=) rs35413925 0.01009
NM_004519.4(KCNQ3):c.1551C>T (p.Ala517=) rs35538317 0.00761
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His) rs114095081 0.00702
NM_004519.4(KCNQ3):c.948C>T (p.Thr316=) rs142144538 0.00564
NM_004519.4(KCNQ3):c.2168G>A (p.Gly723Glu) rs142149782 0.00334
NM_004519.4(KCNQ3):c.1236-16C>T rs201168632 0.00301
NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) rs147173555 0.00165
NM_004519.4(KCNQ3):c.1917C>T (p.Leu639=) rs78731303 0.00131
NM_004519.4(KCNQ3):c.1568+12A>G rs181790623 0.00128
NM_004519.4(KCNQ3):c.2349G>A (p.Thr783=) rs145063831 0.00043
NM_004519.4(KCNQ3):c.1701-17C>T rs375928058 0.00032
NM_004519.4(KCNQ3):c.2097C>T (p.Phe699=) rs139678098 0.00021
NM_004519.4(KCNQ3):c.834T>C (p.Leu278=) rs769657433 0.00020
NM_004519.4(KCNQ3):c.1665C>T (p.Leu555=) rs143511163 0.00004
NM_004519.4(KCNQ3):c.1141-18del rs2130109811
NM_004519.4(KCNQ3):c.1236-20dup rs754643102
NM_004519.4(KCNQ3):c.1884+11del rs749463018
NM_004519.4(KCNQ3):c.1885-5dup rs769845388
NM_004519.4(KCNQ3):c.1958A>G (p.Gln653Arg) rs554833870
NM_004519.4(KCNQ3):c.213C>T (p.Gly71=) rs551914862

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