ClinVar Miner

List of variants reported as pathogenic for congenital hydrocephalus

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001378778.1(MPDZ):c.4469del (p.Gln1490fs) rs781251438 0.00016
NM_001378778.1(MPDZ):c.3211C>T (p.Arg1071Ter) rs376078512 0.00011
NM_001378778.1(MPDZ):c.4003+1G>A rs767038098 0.00002
NM_001080414.4(CCDC88C):c.5841_5842del (p.Glu1949fs) rs387907321 0.00001
NM_001278116.2(L1CAM):c.2254G>A (p.Val752Met) rs137852525 0.00001
NM_001378778.1(MPDZ):c.1735C>T (p.Arg579Ter) rs571799365 0.00001
NM_001378778.1(MPDZ):c.2882_2885dup (p.Ser963fs) rs747068627 0.00001
L1CAM, 1.3-KB DUP
NC_000009.11:g.(13133904_13136090)_(13136182_13136710)del
NM_001080414.4(CCDC88C):c.255dup (p.Lys86Ter) rs1886637325
NM_001080414.4(CCDC88C):c.5058+1G>A rs387907320
NM_001080414.4(CCDC88C):c.5265_5266del (p.Phe1755fs) rs1567043467
NM_001080414.4(CCDC88C):c.934C>T (p.Arg312Ter) rs369384363
NM_001145313.3(FSD1L):c.1411C>T (p.Gln471Ter)
NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter) rs770279237
NM_001163809.2(WDR81):c.3771T>G (p.Tyr1257Ter) rs1484029774
NM_001163809.2(WDR81):c.845G>A (p.Gly282Glu) rs730882206
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg) rs137852524
NM_001278116.2(L1CAM):c.1268-1G>A rs1603275538
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg) rs137852520
NM_001278116.2(L1CAM):c.1408C>T (p.Gln470Ter) rs1064793163
NM_001278116.2(L1CAM):c.1453C>T (p.Arg485Ter) rs886039407
NM_001278116.2(L1CAM):c.1703+5G>A
NM_001278116.2(L1CAM):c.1939+5G>A rs879253716
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter) rs797045673
NM_001278116.2(L1CAM):c.2296C>T (p.Gln766Ter)
NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter) rs875989884
NM_001278116.2(L1CAM):c.2421_2422del (p.Gly808fs) rs879253715
NM_001278116.2(L1CAM):c.2432-19A>C rs879253713
NM_001278116.2(L1CAM):c.2440dup (p.Ala814fs) rs1603274424
NM_001278116.2(L1CAM):c.3046+1G>A rs1557090220
NM_001278116.2(L1CAM):c.3458-1G>C rs879253724
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) rs137852522
NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln) rs137852521
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001278116.2(L1CAM):c.791G>A (p.Cys264Tyr) rs137852518
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) rs797044787
NM_001378778.1(MPDZ):c.2230C>T (p.Arg744Ter) rs922703465
NM_001378778.1(MPDZ):c.3360-2A>G rs1950043713
NM_001378778.1(MPDZ):c.414del (p.Phe138fs) rs1267168609
NM_001378778.1(MPDZ):c.5125_5126insGTAT (p.Tyr1709fs) rs2131610068
NM_001378778.1(MPDZ):c.5278G>A (p.Ala1760Thr) rs1554644827
NM_001378778.1(MPDZ):c.5305G>T (p.Gly1769Ter) rs772351764
NM_001378778.1(MPDZ):c.628C>T (p.Gln210Ter) rs372127610
NM_001378778.1(MPDZ):c.755G>A (p.Trp252Ter) rs797045707

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