ClinVar Miner

List of variants studied for neurodevelopmental disorder by Center of Medical Genetics, Central South University

Included ClinVar conditions (779):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_015100.4(POGZ):c.4089T>G (p.His1363Gln) rs142860188 0.00106
NM_015100.4(POGZ):c.2792C>T (p.Pro931Leu) rs373783340 0.00011
NM_015100.4(POGZ):c.757C>T (p.Pro253Ser) rs926772662 0.00009
NM_015100.4(POGZ):c.3607G>A (p.Glu1203Lys) rs756483529 0.00004
NM_015100.4(POGZ):c.3659A>G (p.Gln1220Arg) rs769581210 0.00004
NM_015100.4(POGZ):c.1072A>G (p.Met358Val) rs574158925 0.00003
NM_015100.4(POGZ):c.1375G>A (p.Asp459Asn) rs888864913 0.00003
NM_015100.4(POGZ):c.2542C>T (p.Arg848Trp) rs548226228 0.00003
NM_015100.4(POGZ):c.1426C>T (p.Arg476Trp) rs267598016 0.00002
NM_015100.4(POGZ):c.1427G>A (p.Arg476Gln) rs763820362 0.00002
NM_015100.4(POGZ):c.1549G>A (p.Val517Ile) rs754532606 0.00002
NM_015100.4(POGZ):c.2557A>G (p.Ile853Val) rs749270162 0.00002
NM_015100.4(POGZ):c.2591G>A (p.Arg864Gln) rs753214391 0.00002
NM_015100.4(POGZ):c.3116G>A (p.Arg1039His) rs760059077 0.00002
NM_015100.4(POGZ):c.130G>A (p.Val44Met) rs752798900 0.00001
NM_015100.4(POGZ):c.1978A>G (p.Lys660Glu) rs1418634444 0.00001
NM_015100.4(POGZ):c.211G>A (p.Val71Ile) rs866632178 0.00001
NM_015100.4(POGZ):c.2608G>A (p.Val870Met) rs772572695 0.00001
NM_015100.4(POGZ):c.3343C>G (p.Gln1115Glu) rs778792467 0.00001
NM_015100.4(POGZ):c.3373A>G (p.Ile1125Val) rs760211123 0.00001
NM_015100.4(POGZ):c.3559C>T (p.Pro1187Ser) rs202098093 0.00001
NM_015100.4(POGZ):c.3880T>C (p.Ser1294Pro) rs1484207450 0.00001
NM_015100.4(POGZ):c.4042G>C (p.Glu1348Gln) rs756691187 0.00001
NM_015100.4(POGZ):c.499A>G (p.Met167Val) rs375045125 0.00001
NM_015100.4(POGZ):c.830A>G (p.Gln277Arg) rs561369202 0.00001
NM_015100.4(POGZ):c.942C>G (p.Ser314Arg) rs574335012 0.00001
NM_015100.4(POGZ):c.1318C>G (p.Pro440Ala) rs1557902023
NM_015100.4(POGZ):c.1445C>G (p.Ala482Gly) rs1557901347
NM_015100.4(POGZ):c.1940A>C (p.Tyr647Ser) rs749548928
NM_015100.4(POGZ):c.1948A>C (p.Asn650His) rs1557874046
NM_015100.4(POGZ):c.2396G>A (p.Ser799Asn) rs1557870645
NM_015100.4(POGZ):c.2705C>T (p.Thr902Ile) rs1557867853
NM_015100.4(POGZ):c.272C>A (p.Ala91Asp) rs1557935477
NM_015100.4(POGZ):c.303G>T (p.Gln101His) rs1557916296
NM_015100.4(POGZ):c.319C>G (p.Leu107Val) rs998675361
NM_015100.4(POGZ):c.3388T>G (p.Leu1130Val) rs1276388879
NM_015100.4(POGZ):c.3772A>T (p.Ser1258Cys) rs1557863546
NM_015100.4(POGZ):c.3802A>G (p.Ile1268Val) rs1557863440
NM_015100.4(POGZ):c.3806A>G (p.Lys1269Arg) rs1557863430
NM_015100.4(POGZ):c.4132A>C (p.Thr1378Pro) rs370498156
NM_015100.4(POGZ):c.4207G>A (p.Ala1403Thr) rs1452048149
NM_015100.4(POGZ):c.625A>T (p.Met209Leu) rs1557911386
NM_015100.4(POGZ):c.749A>G (p.Lys250Arg) rs1557910728
NM_015100.4(POGZ):c.794C>G (p.Thr265Ser) rs1476293577
NM_015100.4(POGZ):c.860C>T (p.Ala287Val) rs1372713010
NM_015100.4(POGZ):c.902T>C (p.Phe301Ser) rs1557909821
NM_015100.4(POGZ):c.970C>G (p.Leu324Val) rs1557909572

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