ClinVar Miner

List of variants reported as uncertain significance for congenital hydrocephalus by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr) rs151330612 0.00121
NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val) rs200650758 0.00081
NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu) rs201940261 0.00078
NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala) rs201414940 0.00057
NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln) rs200769097 0.00053
NM_001378778.1(MPDZ):c.367G>A (p.Asp123Asn) rs367848962 0.00007
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp) rs201978087 0.00003
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys) rs1557090130 0.00001
NM_001278116.2(L1CAM):c.2516_2517delinsAT (p.Ala839Asp) rs2148494375

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