ClinVar Miner

List of variants in gene MPDZ studied for hydrocephalus

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_001378778.1(MPDZ):c.1804-26G>C rs1331676 0.98425
NM_001378778.1(MPDZ):c.4807+14A>G rs2297003 0.61011
NM_001378778.1(MPDZ):c.1074A>G (p.Thr358=) rs13297480 0.14798
NM_001378778.1(MPDZ):c.6176G>A (p.Arg2059Gln) rs193280665 0.00527
NM_001378778.1(MPDZ):c.1041G>C (p.Leu347Phe) rs34911705 0.00309
NM_001378778.1(MPDZ):c.2344G>A (p.Gly782Arg) rs192227753 0.00302
NM_001378778.1(MPDZ):c.93C>G (p.Asp31Glu) rs148433683 0.00085
NM_001378778.1(MPDZ):c.3602C>G (p.Thr1201Ser) rs184213204 0.00066
NM_001378778.1(MPDZ):c.6115G>A (p.Ala2039Thr) rs140627050 0.00031
NM_001378778.1(MPDZ):c.893G>C (p.Ser298Thr) rs201889514 0.00029
NM_001378778.1(MPDZ):c.881G>A (p.Gly294Glu) rs768539794 0.00019
NM_001378778.1(MPDZ):c.3131G>A (p.Arg1044Gln) rs374370475 0.00016
NM_001378778.1(MPDZ):c.4469del (p.Gln1490fs) rs781251438 0.00016
NM_001378778.1(MPDZ):c.5425G>C (p.Gly1809Arg) rs374250159 0.00012
NM_001378778.1(MPDZ):c.3211C>T (p.Arg1071Ter) rs376078512 0.00011
NM_001378778.1(MPDZ):c.5765A>C (p.Glu1922Ala) rs372346014 0.00008
NM_001378778.1(MPDZ):c.2401G>T (p.Asp801Tyr) rs758473798 0.00007
NM_001378778.1(MPDZ):c.367G>A (p.Asp123Asn) rs367848962 0.00007
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser) rs201101621 0.00007
NM_001378778.1(MPDZ):c.5113C>T (p.Arg1705Cys) rs529673809 0.00007
NM_001378778.1(MPDZ):c.2264A>G (p.Asn755Ser) rs761039217 0.00005
NM_001378778.1(MPDZ):c.3055G>A (p.Gly1019Arg) rs773285609 0.00005
NM_001378778.1(MPDZ):c.2606A>G (p.Asp869Gly) rs765068620 0.00004
NM_001378778.1(MPDZ):c.3263A>G (p.Tyr1088Cys) rs372125677 0.00004
NM_001378778.1(MPDZ):c.3741+6C>T rs368808895 0.00003
NM_001378778.1(MPDZ):c.4003+1G>A rs767038098 0.00002
NM_001378778.1(MPDZ):c.1735C>T (p.Arg579Ter) rs571799365 0.00001
NM_001378778.1(MPDZ):c.1972C>T (p.His658Tyr) rs368581522 0.00001
NM_001378778.1(MPDZ):c.2882_2885dup (p.Ser963fs) rs747068627 0.00001
NM_001378778.1(MPDZ):c.296A>G (p.Asn99Ser) rs545147875 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
NM_001378778.1(MPDZ):c.5379G>A (p.Lys1793=) rs866183007 0.00001
NM_001378778.1(MPDZ):c.5507C>G (p.Ser1836Cys) rs755059203 0.00001
NC_000009.11:g.(13133904_13136090)_(13136182_13136710)del
NM_001378778.1(MPDZ):c.1294G>T (p.Asp432Tyr)
NM_001378778.1(MPDZ):c.1338_1341dup (p.Leu448fs) rs2135678282
NM_001378778.1(MPDZ):c.1354G>T (p.Gly452Ter)
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.1739C>G (p.Ser580Cys) rs149265684
NM_001378778.1(MPDZ):c.1997G>C (p.Gly666Ala)
NM_001378778.1(MPDZ):c.2230C>T (p.Arg744Ter) rs922703465
NM_001378778.1(MPDZ):c.2234T>C (p.Leu745Pro) rs1954519934
NM_001378778.1(MPDZ):c.2633dup (p.Ser879fs)
NM_001378778.1(MPDZ):c.2649+1G>A
NM_001378778.1(MPDZ):c.2650G>C (p.Asp884His)
NM_001378778.1(MPDZ):c.3151G>C (p.Gly1051Arg)
NM_001378778.1(MPDZ):c.3253A>T (p.Lys1085Ter) rs1951349487
NM_001378778.1(MPDZ):c.3360-2A>G rs1950043713
NM_001378778.1(MPDZ):c.3382C>T (p.Arg1128Ter)
NM_001378778.1(MPDZ):c.3800C>T (p.Thr1267Ile)
NM_001378778.1(MPDZ):c.3820_3821del (p.Leu1274fs) rs751161649
NM_001378778.1(MPDZ):c.3985G>A (p.Glu1329Lys)
NM_001378778.1(MPDZ):c.4003A>T (p.Lys1335Ter) rs1587149916
NM_001378778.1(MPDZ):c.409_410delinsC (p.Val137fs)
NM_001378778.1(MPDZ):c.414del (p.Phe138fs) rs1267168609
NM_001378778.1(MPDZ):c.4222G>A (p.Gly1408Arg)
NM_001378778.1(MPDZ):c.425A>G (p.Lys142Arg)
NM_001378778.1(MPDZ):c.4492del (p.Ser1498fs)
NM_001378778.1(MPDZ):c.4561G>C (p.Gly1521Arg)
NM_001378778.1(MPDZ):c.4702C>T (p.Gln1568Ter)
NM_001378778.1(MPDZ):c.4768G>A (p.Val1590Ile) rs1486488017
NM_001378778.1(MPDZ):c.4843T>C (p.Ser1615Pro)
NM_001378778.1(MPDZ):c.5002G>C (p.Asp1668His)
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.5567A>C (p.Glu1856Ala) rs199730853
NM_001378778.1(MPDZ):c.5648G>T (p.Ser1883Ile) rs986731225
NM_001378778.1(MPDZ):c.6007_6013dup (p.Tyr2005fs) rs1586841546
NM_001378778.1(MPDZ):c.6103G>T (p.Asp2035Tyr)
NM_001378778.1(MPDZ):c.628C>T (p.Gln210Ter) rs372127610
NM_001378778.1(MPDZ):c.755G>A (p.Trp252Ter) rs797045707
NM_001378778.1(MPDZ):c.821G>A (p.Gly274Glu)
NM_001378778.1(MPDZ):c.98_99del (p.Leu33fs)

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