ClinVar Miner

List of variants in gene POMGNT2 studied for cobblestone lissencephaly

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP
NC_000003.11:g.(?_43121161)_(43122943_?)dup
NM_032806.6(POMGNT2):c.1010A>G (p.Asn337Ser) rs200535361
NM_032806.6(POMGNT2):c.1042C>T (p.Gln348Ter)
NM_032806.6(POMGNT2):c.1070G>A (p.Arg357His)
NM_032806.6(POMGNT2):c.1113C>T (p.Pro371=) rs772146015
NM_032806.6(POMGNT2):c.1114G>A (p.Asp372Asn)
NM_032806.6(POMGNT2):c.1123A>G (p.Thr375Ala)
NM_032806.6(POMGNT2):c.1162C>T (p.Leu388Phe) rs139060322
NM_032806.6(POMGNT2):c.119G>A (p.Arg40Gln) rs146229269
NM_032806.6(POMGNT2):c.1219C>T (p.Arg407Trp) rs138480528
NM_032806.6(POMGNT2):c.1232del (p.Gln411fs) rs755487513
NM_032806.6(POMGNT2):c.1233G>A (p.Gln411=) rs9811883
NM_032806.6(POMGNT2):c.1286G>A (p.Arg429His)
NM_032806.6(POMGNT2):c.1313G>A (p.Arg438Gln)
NM_032806.6(POMGNT2):c.1333C>T (p.Arg445Ter) rs387907299
NM_032806.6(POMGNT2):c.1349C>G (p.Thr450Ser)
NM_032806.6(POMGNT2):c.1384C>T (p.Arg462Trp) rs147175064
NM_032806.6(POMGNT2):c.1385G>T (p.Arg462Leu) rs34083889
NM_032806.6(POMGNT2):c.1387C>T (p.Arg463Cys)
NM_032806.6(POMGNT2):c.1390G>A (p.Val464Met)
NM_032806.6(POMGNT2):c.1402C>T (p.Arg468Trp) rs137873804
NM_032806.6(POMGNT2):c.1415G>A (p.Arg472Gln)
NM_032806.6(POMGNT2):c.1457G>A (p.Arg486Gln)
NM_032806.6(POMGNT2):c.1488C>T (p.Gly496=) rs35207939
NM_032806.6(POMGNT2):c.1514C>G (p.Ser505Cys)
NM_032806.6(POMGNT2):c.1602C>T (p.Tyr534=) rs143832191
NM_032806.6(POMGNT2):c.161C>T (p.Pro54Leu)
NM_032806.6(POMGNT2):c.1660A>G (p.Thr554Ala) rs202058055
NM_032806.6(POMGNT2):c.1669C>T (p.Leu557=) rs1477248373
NM_032806.6(POMGNT2):c.1687A>G (p.Ile563Val)
NM_032806.6(POMGNT2):c.1716T>G (p.Phe572Leu)
NM_032806.6(POMGNT2):c.1740G>A (p.Thr580=) rs148890110
NM_032806.6(POMGNT2):c.230G>A (p.Arg77His) rs769075803
NM_032806.6(POMGNT2):c.238C>T (p.Arg80Cys) rs780388475
NM_032806.6(POMGNT2):c.239G>A (p.Arg80His) rs146511234
NM_032806.6(POMGNT2):c.25G>A (p.Ala9Thr)
NM_032806.6(POMGNT2):c.262A>G (p.Asn88Asp)
NM_032806.6(POMGNT2):c.283_285TTC[1] (p.Phe96del) rs767570675
NM_032806.6(POMGNT2):c.290A>T (p.His97Leu)
NM_032806.6(POMGNT2):c.30C>T (p.Leu10=) rs147920308
NM_032806.6(POMGNT2):c.332G>A (p.Arg111His) rs778907895
NM_032806.6(POMGNT2):c.364G>A (p.Val122Met) rs149948290
NM_032806.6(POMGNT2):c.377A>G (p.Asn126Ser) rs750654109
NM_032806.6(POMGNT2):c.396C>G (p.Phe132Leu)
NM_032806.6(POMGNT2):c.397G>A (p.Val133Met)
NM_032806.6(POMGNT2):c.409G>T (p.Ala137Ser) rs760916035
NM_032806.6(POMGNT2):c.421C>T (p.Arg141Cys) rs150758981
NM_032806.6(POMGNT2):c.422G>A (p.Arg141His) rs576598140
NM_032806.6(POMGNT2):c.437C>T (p.Pro146Leu)
NM_032806.6(POMGNT2):c.438G>A (p.Pro146=) rs375314883
NM_032806.6(POMGNT2):c.442T>C (p.Phe148Leu)
NM_032806.6(POMGNT2):c.450A>G (p.Pro150=) rs142190930
NM_032806.6(POMGNT2):c.454G>A (p.Val152Met) rs201114442
NM_032806.6(POMGNT2):c.458C>G (p.Ala153Gly) rs1559414712
NM_032806.6(POMGNT2):c.473G>A (p.Arg158His) rs387907300
NM_032806.6(POMGNT2):c.484G>A (p.Asp162Asn) rs201407522
NM_032806.6(POMGNT2):c.488A>G (p.Asn163Ser) rs140389725
NM_032806.6(POMGNT2):c.499G>A (p.Val167Ile)
NM_032806.6(POMGNT2):c.528C>T (p.Phe176=) rs777276517
NM_032806.6(POMGNT2):c.537G>C (p.Leu179=) rs149932476
NM_032806.6(POMGNT2):c.561C>T (p.His187=) rs147429438
NM_032806.6(POMGNT2):c.569G>A (p.Arg190Gln) rs200080447
NM_032806.6(POMGNT2):c.576C>T (p.Phe192=) rs755626367
NM_032806.6(POMGNT2):c.582G>T (p.Met194Ile)
NM_032806.6(POMGNT2):c.610G>A (p.Asp204Asn)
NM_032806.6(POMGNT2):c.625C>T (p.Leu209Phe)
NM_032806.6(POMGNT2):c.635A>G (p.Lys212Arg) rs141665095
NM_032806.6(POMGNT2):c.650G>A (p.Arg217Gln) rs368280765
NM_032806.6(POMGNT2):c.652G>A (p.Ala218Thr) rs1559414478
NM_032806.6(POMGNT2):c.674G>A (p.Arg225Gln) rs138980930
NM_032806.6(POMGNT2):c.680T>A (p.Leu227Gln) rs1559414462
NM_032806.6(POMGNT2):c.71G>A (p.Arg24Gln) rs139245562
NM_032806.6(POMGNT2):c.745C>T (p.Gln249Ter) rs1553618354
NM_032806.6(POMGNT2):c.747G>C (p.Gln249His)
NM_032806.6(POMGNT2):c.758C>T (p.Pro253Leu) rs374042455
NM_032806.6(POMGNT2):c.762G>A (p.Lys254=) rs115870061
NM_032806.6(POMGNT2):c.762G>T (p.Lys254Asn) rs115870061
NM_032806.6(POMGNT2):c.77G>A (p.Arg26His) rs143667339
NM_032806.6(POMGNT2):c.780A>G (p.Ser260=) rs371749889
NM_032806.6(POMGNT2):c.793C>T (p.Arg265Trp) rs753736893
NM_032806.6(POMGNT2):c.799T>A (p.Phe267Ile)
NM_032806.6(POMGNT2):c.81G>A (p.Glu27=) rs201572917
NM_032806.6(POMGNT2):c.839C>G (p.Thr280Arg)
NM_032806.6(POMGNT2):c.855C>T (p.Gly285=) rs763778888
NM_032806.6(POMGNT2):c.856G>A (p.Glu286Lys)
NM_032806.6(POMGNT2):c.859G>A (p.Glu287Lys) rs774815839
NM_032806.6(POMGNT2):c.861G>A (p.Glu287=) rs187003222
NM_032806.6(POMGNT2):c.935A>G (p.Gln312Arg) rs375879947
NM_032806.6(POMGNT2):c.966C>G (p.Ser322=) rs141319921
NM_032806.6(POMGNT2):c.979A>C (p.Thr327Pro)
NM_032806.6(POMGNT2):c.994G>A (p.Val332Met)
NM_032806.6(POMGNT2):c.997C>T (p.Arg333Trp)

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