ClinVar Miner

List of variants reported as benign for congenital hydrocephalus

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.-109+1811dup rs77883713 0.99995
NM_001080414.4(CCDC88C):c.1527+128A>G rs1285766 0.98802
NM_001378778.1(MPDZ):c.1804-26G>C rs1331676 0.98425
NM_001080414.4(CCDC88C):c.5975T>C (p.Leu1992Pro) rs941920 0.90936
NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=) rs3809872 0.73341
NM_001080414.4(CCDC88C):c.4630+78G>T rs2277509 0.65846
NM_001378778.1(MPDZ):c.4807+14A>G rs2297003 0.61011
NM_001080414.4(CCDC88C):c.3966+12G>A rs3742656 0.56935
NM_001080414.4(CCDC88C):c.3009A>G (p.Leu1003=) rs1970912 0.56314
NM_001163809.2(WDR81):c.4743A>G (p.Pro1581=) rs3809871 0.53472
NM_001080414.4(CCDC88C):c.60+8C>A rs3742654 0.41434
NM_001163809.2(WDR81):c.5506-19C>G rs62090051 0.23717
NM_001163809.2(WDR81):c.*56A>G rs2287322 0.22860
NM_001163809.2(WDR81):c.5127G>A (p.Pro1709=) rs8065251 0.22229
NM_001163809.2(WDR81):c.2739G>A (p.Leu913=) rs9912287 0.21861
NM_001163809.2(WDR81):c.5640C>T (p.Ser1880=) rs8077638 0.21643
NM_001080414.4(CCDC88C):c.114C>T (p.Tyr38=) rs45437097 0.16963
NM_001378778.1(MPDZ):c.1074A>G (p.Thr358=) rs13297480 0.14798
NM_001080414.4(CCDC88C):c.4975C>A (p.Arg1659=) rs150512553 0.02576
NM_001278116.2(L1CAM):c.649A>C (p.Arg217=) rs201204893 0.00014
NM_001080414.4(CCDC88C):c.61-85T>C rs1285844
NM_001163809.2(WDR81):c.5556C>T (p.Thr1852=) rs1045794
NM_001278116.2(L1CAM):c.-109+234del rs199975679
NM_001278116.2(L1CAM):c.-109+238_-109+239insGG rs143464562

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