ClinVar Miner

List of variants studied for central nervous system malformation by Kids Neuroscience Centre, Sydney Children's Hospitals Network

Included ClinVar conditions (173):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter) rs121434348
NM_001134831.2(AHI1):c.2492+5G>A rs2128012406
NM_001378615.1(CC2D2A):c.438+1G>T rs1453265480
NM_002547.3(OPHN1):c.1202-1G>A rs2147456067
NM_002547.3(OPHN1):c.702+4A>G rs2147481894

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