ClinVar Miner

List of variants reported as likely benign for neonatal period electroclinical syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
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_173354.5(SIK1):c.2087C>T (p.Pro696Leu) rs56386767 0.00709
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His) rs114095081 0.00702
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile) rs34987632 0.00446
NM_004519.4(KCNQ3):c.2168G>A (p.Gly723Glu) rs142149782 0.00334
NM_004519.4(KCNQ3):c.1236-16C>T rs201168632 0.00301
NM_173354.5(SIK1):c.1119+7G>A rs201075575 0.00128
NM_172107.4(KCNQ2):c.1887+17G>A rs369457896 0.00091
NM_173354.5(SIK1):c.207G>A (p.Glu69=) rs201818967 0.00006
NM_173354.5(SIK1):c.855G>A (p.Pro285=) rs549052367 0.00006
NM_172107.4(KCNQ2):c.691-14C>T rs200448016 0.00004
NM_001191061.2(SLC25A22):c.654G>A (p.Ala218=) rs769899113 0.00003
NM_004519.4(KCNQ3):c.1568+8C>T rs370337209 0.00002

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