ClinVar Miner

List of variants in gene POMGNT2 reported as likely benign for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 133
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HGVS dbSNP gnomAD frequency
NM_032806.6(POMGNT2):c.674G>A (p.Arg225Gln) rs138980930 0.00208
NM_032806.6(POMGNT2):c.1388G>A (p.Arg463His) rs143394182 0.00081
NM_032806.6(POMGNT2):c.488A>G (p.Asn163Ser) rs140389725 0.00067
NM_032806.6(POMGNT2):c.1602C>T (p.Tyr534=) rs143832191 0.00066
NM_032806.6(POMGNT2):c.561C>T (p.His187=) rs147429438 0.00059
NM_032806.6(POMGNT2):c.1740G>A (p.Thr580=) rs148890110 0.00055
NM_032806.6(POMGNT2):c.828C>T (p.Asn276=) rs150404794 0.00044
NM_032806.6(POMGNT2):c.465C>T (p.Ile155=) rs140578716 0.00038
NM_032806.6(POMGNT2):c.438G>A (p.Pro146=) rs375314883 0.00036
NM_032806.6(POMGNT2):c.780A>G (p.Ser260=) rs371749889 0.00031
NM_032806.6(POMGNT2):c.1113C>T (p.Pro371=) rs772146015 0.00026
NM_032806.6(POMGNT2):c.162G>A (p.Pro54=) rs755111895 0.00014
NM_032806.6(POMGNT2):c.195A>G (p.Thr65=) rs199992681 0.00012
NM_032806.6(POMGNT2):c.422G>A (p.Arg141His) rs576598140 0.00012
NM_032806.6(POMGNT2):c.1137G>A (p.Thr379=) rs377724350 0.00010
NM_032806.6(POMGNT2):c.1392G>C (p.Val464=) rs554801280 0.00010
NM_032806.6(POMGNT2):c.928C>T (p.Leu310=) rs151274025 0.00010
NM_032806.6(POMGNT2):c.1092C>G (p.Leu364=) rs372895122 0.00009
NM_032806.6(POMGNT2):c.189C>T (p.Gly63=) rs377288837 0.00008
NM_032806.6(POMGNT2):c.1455G>A (p.Val485=) rs145017190 0.00007
NM_032806.6(POMGNT2):c.499G>A (p.Val167Ile) rs201333414 0.00007
NM_032806.6(POMGNT2):c.1593G>A (p.Glu531=) rs368787205 0.00006
NM_032806.6(POMGNT2):c.219G>A (p.Thr73=) rs138728885 0.00006
NM_032806.6(POMGNT2):c.646C>T (p.Leu216=) rs1403289209 0.00006
NM_032806.6(POMGNT2):c.1083G>A (p.Val361=) rs765996959 0.00005
NM_032806.6(POMGNT2):c.12G>A (p.Ser4=) rs368531523 0.00005
NM_032806.6(POMGNT2):c.15G>A (p.Ala5=) rs570040029 0.00005
NM_032806.6(POMGNT2):c.363C>T (p.Thr121=) rs200345083 0.00005
NM_032806.6(POMGNT2):c.459C>T (p.Ala153=) rs373276653 0.00005
NM_032806.6(POMGNT2):c.51G>A (p.Ala17=) rs749826105 0.00005
NM_032806.6(POMGNT2):c.1181G>A (p.Arg394Gln) rs199612856 0.00004
NM_032806.6(POMGNT2):c.1725G>A (p.Val575=) rs371375820 0.00004
NM_032806.6(POMGNT2):c.222C>T (p.His74=) rs141040291 0.00004
NM_032806.6(POMGNT2):c.30C>T (p.Leu10=) rs147920308 0.00004
NM_032806.6(POMGNT2):c.453C>T (p.Asp151=) rs547735064 0.00004
NM_032806.6(POMGNT2):c.510C>T (p.Asp170=) rs148958732 0.00004
NM_032806.6(POMGNT2):c.594C>T (p.Gly198=) rs766704217 0.00004
NM_032806.6(POMGNT2):c.1276C>T (p.Leu426=) rs375062544 0.00003
NM_032806.6(POMGNT2):c.1389C>T (p.Arg463=) rs756556274 0.00003
NM_032806.6(POMGNT2):c.81G>A (p.Glu27=) rs201572917 0.00003
NM_032806.6(POMGNT2):c.861G>A (p.Glu287=) rs187003222 0.00003
NM_032806.6(POMGNT2):c.1122C>T (p.Tyr374=) rs777746219 0.00002
NM_032806.6(POMGNT2):c.123G>A (p.Gln41=) rs771662422 0.00002
NM_032806.6(POMGNT2):c.1296A>G (p.Pro432=) rs373951159 0.00002
NM_032806.6(POMGNT2):c.1380C>T (p.Thr460=) rs375414490 0.00002
NM_032806.6(POMGNT2):c.1434C>T (p.Val478=) rs771980076 0.00002
NM_032806.6(POMGNT2):c.357A>G (p.Leu119=) rs748074599 0.00002
NM_032806.6(POMGNT2):c.393C>T (p.Asn131=) rs750111000 0.00002
NM_032806.6(POMGNT2):c.420G>A (p.Leu140=) rs1176941282 0.00002
NM_032806.6(POMGNT2):c.525C>T (p.Leu175=) rs956081683 0.00002
NM_032806.6(POMGNT2):c.588C>T (p.Gly196=) rs755425952 0.00002
NM_032806.6(POMGNT2):c.654A>G (p.Ala218=) rs144519422 0.00002
NM_032806.6(POMGNT2):c.705C>A (p.Gly235=) rs760894012 0.00002
NM_032806.6(POMGNT2):c.850C>T (p.Leu284=) rs776247217 0.00002
NM_032806.6(POMGNT2):c.852A>G (p.Leu284=) rs1553618336 0.00002
NM_032806.6(POMGNT2):c.106C>T (p.Leu36=) rs753784723 0.00001
NM_032806.6(POMGNT2):c.1275C>T (p.Ile425=) rs1006094827 0.00001
NM_032806.6(POMGNT2):c.1320C>T (p.Pro440=) rs377725879 0.00001
NM_032806.6(POMGNT2):c.1329C>T (p.Leu443=) rs778395477 0.00001
NM_032806.6(POMGNT2):c.1416G>A (p.Arg472=) rs775636761 0.00001
NM_032806.6(POMGNT2):c.1476G>A (p.Ala492=) rs371889758 0.00001
NM_032806.6(POMGNT2):c.1494C>T (p.Ser498=) rs751826847 0.00001
NM_032806.6(POMGNT2):c.1551G>A (p.Val517=) rs772907296 0.00001
NM_032806.6(POMGNT2):c.1669C>T (p.Leu557=) rs1477248373 0.00001
NM_032806.6(POMGNT2):c.204G>A (p.Val68=) rs201432948 0.00001
NM_032806.6(POMGNT2):c.210G>A (p.Thr70=) rs767368543 0.00001
NM_032806.6(POMGNT2):c.24C>T (p.Asn8=) rs780544642 0.00001
NM_032806.6(POMGNT2):c.264C>T (p.Asn88=) rs572228301 0.00001
NM_032806.6(POMGNT2):c.342A>G (p.Pro114=) rs1401054879 0.00001
NM_032806.6(POMGNT2):c.351C>T (p.Leu117=) rs1161648391 0.00001
NM_032806.6(POMGNT2):c.498C>T (p.His166=) rs748906775 0.00001
NM_032806.6(POMGNT2):c.516G>C (p.Leu172=) rs553884155 0.00001
NM_032806.6(POMGNT2):c.549C>T (p.Pro183=) rs1023281263 0.00001
NM_032806.6(POMGNT2):c.576C>T (p.Phe192=) rs755626367 0.00001
NM_032806.6(POMGNT2):c.609C>T (p.Phe203=) rs765429374 0.00001
NM_032806.6(POMGNT2):c.759G>A (p.Pro253=) rs981484756 0.00001
NM_032806.6(POMGNT2):c.807G>A (p.Arg269=) rs1051665665 0.00001
NM_032806.6(POMGNT2):c.846C>T (p.Val282=) rs761657478 0.00001
NM_032806.6(POMGNT2):c.1038G>T (p.Gly346=)
NM_032806.6(POMGNT2):c.1059C>G (p.Leu353=) rs2125700007
NM_032806.6(POMGNT2):c.1137G>T (p.Thr379=) rs377724350
NM_032806.6(POMGNT2):c.1149G>A (p.Leu383=)
NM_032806.6(POMGNT2):c.1173A>G (p.Val391=) rs1183137342
NM_032806.6(POMGNT2):c.1221G>T (p.Arg407=) rs2125699837
NM_032806.6(POMGNT2):c.1239C>T (p.Gly413=)
NM_032806.6(POMGNT2):c.1333C>A (p.Arg445=) rs387907299
NM_032806.6(POMGNT2):c.1344G>A (p.Gln448=) rs767879383
NM_032806.6(POMGNT2):c.1350C>A (p.Thr450=) rs766467191
NM_032806.6(POMGNT2):c.1365G>T (p.Pro455=)
NM_032806.6(POMGNT2):c.1368C>T (p.Ser456=)
NM_032806.6(POMGNT2):c.1380C>A (p.Thr460=) rs375414490
NM_032806.6(POMGNT2):c.1404G>A (p.Arg468=)
NM_032806.6(POMGNT2):c.1419G>A (p.Lys473=)
NM_032806.6(POMGNT2):c.1446A>C (p.Pro482=)
NM_032806.6(POMGNT2):c.1479A>G (p.Ser493=)
NM_032806.6(POMGNT2):c.1572G>A (p.Val524=)
NM_032806.6(POMGNT2):c.1587G>A (p.Gln529=)
NM_032806.6(POMGNT2):c.1621C>T (p.Leu541=) rs753930965
NM_032806.6(POMGNT2):c.162G>T (p.Pro54=)
NM_032806.6(POMGNT2):c.1653G>A (p.Lys551=) rs2125699292
NM_032806.6(POMGNT2):c.1705C>T (p.Leu569=)
NM_032806.6(POMGNT2):c.177C>T (p.Ile59=)
NM_032806.6(POMGNT2):c.261C>T (p.Ser87=) rs1575463050
NM_032806.6(POMGNT2):c.270T>C (p.Ala90=)
NM_032806.6(POMGNT2):c.321G>C (p.Leu107=) rs1575462988
NM_032806.6(POMGNT2):c.33G>C (p.Leu11=)
NM_032806.6(POMGNT2):c.363C>G (p.Thr121=) rs200345083
NM_032806.6(POMGNT2):c.36G>T (p.Val12=)
NM_032806.6(POMGNT2):c.396C>T (p.Phe132=) rs150567400
NM_032806.6(POMGNT2):c.39G>A (p.Ser13=) rs59831271
NM_032806.6(POMGNT2):c.39G>C (p.Ser13=) rs59831271
NM_032806.6(POMGNT2):c.441G>T (p.Val147=) rs2089848677
NM_032806.6(POMGNT2):c.471C>T (p.Asn157=)
NM_032806.6(POMGNT2):c.483C>T (p.Pro161=) rs548747822
NM_032806.6(POMGNT2):c.513C>T (p.Asp171=) rs1575462703
NM_032806.6(POMGNT2):c.514C>T (p.Leu172=)
NM_032806.6(POMGNT2):c.528C>T (p.Phe176=) rs777276517
NM_032806.6(POMGNT2):c.531C>T (p.Tyr177=)
NM_032806.6(POMGNT2):c.535C>T (p.Leu179=)
NM_032806.6(POMGNT2):c.538C>A (p.Arg180=) rs371895867
NM_032806.6(POMGNT2):c.555G>A (p.Leu185=) rs564420247
NM_032806.6(POMGNT2):c.573C>T (p.Leu191=)
NM_032806.6(POMGNT2):c.622C>T (p.Leu208=)
NM_032806.6(POMGNT2):c.681G>A (p.Leu227=) rs371425376
NM_032806.6(POMGNT2):c.681G>T (p.Leu227=) rs371425376
NM_032806.6(POMGNT2):c.702G>T (p.Val234=)
NM_032806.6(POMGNT2):c.723C>A (p.Thr241=)
NM_032806.6(POMGNT2):c.735T>C (p.Tyr245=)
NM_032806.6(POMGNT2):c.786T>C (p.Asn262=)
NM_032806.6(POMGNT2):c.837C>T (p.His279=) rs2089842075
NM_032806.6(POMGNT2):c.909G>A (p.Glu303=)
NM_032806.6(POMGNT2):c.915G>A (p.Glu305=)
NM_032806.6(POMGNT2):c.993C>T (p.Val331=)

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