ClinVar Miner

List of variants reported as likely pathogenic for complex neurodevelopmental disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val) rs886039456 0.00001
NM_001365999.1(SZT2):c.3640C>T (p.Arg1214Ter) rs761810492 0.00001
NM_001367561.1(DOCK7):c.4637dup (p.Thr1547fs) rs770283117 0.00001
NM_015047.3(EMC1):c.426C>A (p.Tyr142Ter) rs370952454 0.00001
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_001165963.4(SCN1A):c.811G>A (p.Gly271Ser) rs2105889878
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs) rs1292551263
NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr) rs1064794727
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp) rs1555883505
NM_004975.4(KCNB1):c.1136G>A (p.Gly379Glu) rs1984249721
NM_006306.4(SMC1A):c.2131C>T (p.Arg711Trp) rs587784409
NM_007254.4(PNKP):c.721G>T (p.Glu241Ter) rs982113263
NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys) rs1064794533
NM_139058.3(ARX):c.994C>G (p.Arg332Gly) rs2147323593
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.4(KCNQ2):c.380A>G (p.Tyr127Cys) rs796052617

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