ClinVar Miner

List of variants studied for complex neurodevelopmental disorder by Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.1110+3A>C rs2131501481
NM_001040142.2(SCN2A):c.4493A>C (p.Tyr1498Ser) rs1558879863
NM_001110792.2(MECP2):c.398A>T (p.Asp133Val) rs61755762
NM_001110792.2(MECP2):c.953G>T (p.Arg318Leu) rs61751443
NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp) rs2105449751
NM_022080.3(NAPB):c.421-1G>A rs1983849974
NM_172107.4(KCNQ2):c.1749G>C (p.Lys583Asn) rs2145541173

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