ClinVar Miner

List of variants reported as likely pathogenic for congenital hydrocephalus

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu) rs587776906 0.00007
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser) rs201101621 0.00007
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr) rs770273135 0.00001
NM_001039111.3(TRIM71):c.2450G>A (p.Arg817Gln) rs1045177462 0.00001
NM_001080414.4(CCDC88C):c.5841_5842del (p.Glu1949fs) rs387907321 0.00001
NM_001378778.1(MPDZ):c.1972C>T (p.His658Tyr) rs368581522 0.00001
NM_001378778.1(MPDZ):c.4171C>T (p.Arg1391Ter) rs777752091 0.00001
NM_001378778.1(MPDZ):c.4906C>T (p.Arg1636Ter) rs797045095 0.00001
NC_000005.9:g.154735732_155604899dup
NC_000005.9:g.155599390_155755985dup
NM_000264.5(PTCH1):c.1503+3A>G rs878853846
NM_000264.5(PTCH1):c.1991_1997del (p.Leu664fs) rs1588574984
NM_000264.5(PTCH1):c.456_457del (p.Met152fs) rs1588622713
NM_001039111.3(TRIM71):c.1886G>A (p.Arg629His) rs1575362239
NM_001163809.2(WDR81):c.3843C>A (p.Tyr1281Ter) rs2151169266
NM_001278116.2(L1CAM):c.1231G>T (p.Gly411Trp)
NM_001278116.2(L1CAM):c.139_140del (p.Val47fs) rs2064782292
NM_001278116.2(L1CAM):c.1565_1566del (p.Gln522fs)
NM_001278116.2(L1CAM):c.1615T>G (p.Cys539Gly) rs886041102
NM_001278116.2(L1CAM):c.2376C>G (p.Asn792Lys)
NM_001278116.2(L1CAM):c.2399C>A (p.Pro800His) rs2148495027
NM_001278116.2(L1CAM):c.2555del (p.Tyr852fs)
NM_001278116.2(L1CAM):c.2848_2849del (p.Gly950fs)
NM_001278116.2(L1CAM):c.3233G>A (p.Trp1078Ter)
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) rs137852522
NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile) rs1603277433
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn) rs1603276146
NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr) rs782163019
NM_001378778.1(MPDZ):c.1338_1341dup (p.Leu448fs) rs2135678282
NM_001378778.1(MPDZ):c.1445T>A (p.Leu482Ter)
NM_001378778.1(MPDZ):c.1502dup (p.Leu501fs) rs1956840371
NM_001378778.1(MPDZ):c.1690G>T (p.Gly564Ter)
NM_001378778.1(MPDZ):c.2649+1G>A
NM_001378778.1(MPDZ):c.3253A>T (p.Lys1085Ter) rs1951349487
NM_001378778.1(MPDZ):c.3820_3821del (p.Leu1274fs) rs751161649
NM_001378778.1(MPDZ):c.4003A>T (p.Lys1335Ter) rs1587149916
NM_001378778.1(MPDZ):c.409_410delinsC (p.Val137fs)
NM_001378778.1(MPDZ):c.4702C>T (p.Gln1568Ter)
NM_001378778.1(MPDZ):c.6007_6013dup (p.Tyr2005fs) rs1586841546
NM_003074.4(SMARCC1):c.1242_1243dup (p.Thr415fs) rs1576412227
NM_003074.4(SMARCC1):c.1577A>C (p.His526Pro) rs1576408057
NM_003074.4(SMARCC1):c.1589_1590insAGTGGGGACTC (p.Gln531fs) rs1576408050
NM_003074.4(SMARCC1):c.2672del (p.Lys891fs) rs1576390243
NM_003074.4(SMARCC1):c.535A>T (p.Lys179Ter) rs1576426439

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