ClinVar Miner

List of variants in gene POMT2 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 121
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HGVS dbSNP
NM_013382.5(POMT2):c.-7G>A rs753350164
NM_013382.5(POMT2):c.1006+5G>A rs587780422
NM_013382.5(POMT2):c.1006C>T (p.His336Tyr) rs765103940
NM_013382.5(POMT2):c.1017C>T (p.Tyr339=) rs1026361359
NM_013382.5(POMT2):c.102C>G (p.Ala34=) rs886044233
NM_013382.5(POMT2):c.1033G>C (p.Val345Leu) rs779053591
NM_013382.5(POMT2):c.1045C>T (p.Arg349Trp) rs141339355
NM_013382.5(POMT2):c.1046G>A (p.Arg349Gln) rs756055923
NM_013382.5(POMT2):c.106G>C (p.Glu36Gln)
NM_013382.5(POMT2):c.1080C>T (p.His360=) rs776866129
NM_013382.5(POMT2):c.1090G>A (p.Glu364Lys) rs772255938
NM_013382.5(POMT2):c.1094G>A (p.Gly365Asp)
NM_013382.5(POMT2):c.1106G>A (p.Arg369His) rs398124260
NM_013382.5(POMT2):c.1116+4A>G rs779844724
NM_013382.5(POMT2):c.1117-7C>G rs201921627
NM_013382.5(POMT2):c.1141T>C (p.Tyr381His) rs369489033
NM_013382.5(POMT2):c.1186C>T (p.Pro396Ser) rs764723711
NM_013382.5(POMT2):c.1192G>C (p.Asp398His) rs145933402
NM_013382.5(POMT2):c.1206A>C (p.Pro402=) rs142479943
NM_013382.5(POMT2):c.1229A>T (p.Asp410Val) rs886043224
NM_013382.5(POMT2):c.1238G>C (p.Arg413Pro) rs190285831
NM_013382.5(POMT2):c.124C>T (p.Pro42Ser) rs1350511523
NM_013382.5(POMT2):c.1250A>G (p.Lys417Arg) rs147268052
NM_013382.5(POMT2):c.128A>G (p.Lys43Arg) rs745417690
NM_013382.5(POMT2):c.1290C>T (p.Ala430=) rs886043974
NM_013382.5(POMT2):c.1306C>T (p.His436Tyr) rs779571965
NM_013382.5(POMT2):c.1321G>A (p.Gly441Ser) rs199743727
NM_013382.5(POMT2):c.1332+6_1332+9del rs781093215
NM_013382.5(POMT2):c.134C>G (p.Pro45Arg) rs753037500
NM_013382.5(POMT2):c.1363C>T (p.Arg455Trp) rs398124261
NM_013382.5(POMT2):c.1386A>C (p.Lys462Asn)
NM_013382.5(POMT2):c.1396C>A (p.Arg466=) rs763119319
NM_013382.5(POMT2):c.1404A>G (p.Lys468=) rs150491326
NM_013382.5(POMT2):c.1407G>T (p.Val469=) rs886042679
NM_013382.5(POMT2):c.1478C>T (p.Pro493Leu) rs727503874
NM_013382.5(POMT2):c.1485-3C>T rs754892193
NM_013382.5(POMT2):c.1485-4A>C rs794727127
NM_013382.5(POMT2):c.1558G>A (p.Asp520Asn) rs886043915
NM_013382.5(POMT2):c.1568A>C (p.Asn523Thr) rs886042386
NM_013382.5(POMT2):c.1620G>A (p.Glu540=) rs886043258
NM_013382.5(POMT2):c.1627C>A (p.Leu543Met) rs367552151
NM_013382.5(POMT2):c.1651C>T (p.Arg551Trp) rs751153662
NM_013382.5(POMT2):c.1654-8T>G rs780532724
NM_013382.5(POMT2):c.1691C>T (p.Thr564Met) rs142445941
NM_013382.5(POMT2):c.1699C>T (p.Pro567Ser) rs727502858
NM_013382.5(POMT2):c.169T>G (p.Trp57Gly) rs1566666666
NM_013382.5(POMT2):c.1701C>G (p.Pro567=) rs151051452
NM_013382.5(POMT2):c.1711C>T (p.Pro571Ser) rs771812476
NM_013382.5(POMT2):c.1726-9A>G rs747493997
NM_013382.5(POMT2):c.1726-9A>T rs747493997
NM_013382.5(POMT2):c.1732C>T (p.Arg578Cys) rs148466370
NM_013382.5(POMT2):c.1743G>A (p.Gly581=) rs755254043
NM_013382.5(POMT2):c.1757A>G (p.Asp586Gly) rs1566644193
NM_013382.5(POMT2):c.1785G>A (p.Pro595=) rs202237807
NM_013382.5(POMT2):c.1785G>C (p.Pro595=) rs202237807
NM_013382.5(POMT2):c.1786-8C>T
NM_013382.5(POMT2):c.1805T>C (p.Leu602Pro) rs1566643981
NM_013382.5(POMT2):c.1824C>T (p.Tyr608=) rs759220971
NM_013382.5(POMT2):c.1835G>T (p.Gly612Val) rs772405371
NM_013382.5(POMT2):c.1870C>T (p.Arg624Trp) rs749335757
NM_013382.5(POMT2):c.1871G>A (p.Arg624Gln) rs369365744
NM_013382.5(POMT2):c.1877C>T (p.Pro626Leu) rs1262591820
NM_013382.5(POMT2):c.1895T>C (p.Leu632Ser) rs398124262
NM_013382.5(POMT2):c.1903G>A (p.Val635Ile) rs142299878
NM_013382.5(POMT2):c.1920C>T (p.Gly640=) rs150755807
NM_013382.5(POMT2):c.1927G>C (p.Val643Leu) rs966965226
NM_013382.5(POMT2):c.1935C>T (p.Leu645=) rs141193672
NM_013382.5(POMT2):c.1958C>T (p.Pro653Leu) rs794727228
NM_013382.5(POMT2):c.1977G>C (p.Arg659=) rs746640722
NM_013382.5(POMT2):c.2072G>T (p.Gly691Val) rs758678348
NM_013382.5(POMT2):c.2083T>C (p.Trp695Arg) rs139308429
NM_013382.5(POMT2):c.2085G>T (p.Trp695Cys) rs398124263
NM_013382.5(POMT2):c.2086C>A (p.Pro696Thr) rs76700503
NM_013382.5(POMT2):c.2086C>T (p.Pro696Ser) rs76700503
NM_013382.5(POMT2):c.2092G>C (p.Ala698Pro) rs1434643039
NM_013382.5(POMT2):c.2107G>C (p.Val703Leu) rs1183341063
NM_013382.5(POMT2):c.2147+2T>G rs1555351620
NM_013382.5(POMT2):c.2147+9C>T rs1253447533
NM_013382.5(POMT2):c.2197del (p.Gln733fs) rs1292248431
NM_013382.5(POMT2):c.2223A>G (p.Gly741=) rs554801559
NM_013382.5(POMT2):c.224G>C (p.Arg75Pro) rs1200964688
NM_013382.5(POMT2):c.229G>A (p.Asp77Asn) rs200992827
NM_013382.5(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.5(POMT2):c.275T>C (p.Met92Thr)
NM_013382.5(POMT2):c.293A>C (p.Asn98Thr) rs368034790
NM_013382.5(POMT2):c.293A>G (p.Asn98Ser) rs368034790
NM_013382.5(POMT2):c.295C>T (p.Arg99Cys) rs199719668
NM_013382.5(POMT2):c.320C>T (p.Pro107Leu) rs398124264
NM_013382.5(POMT2):c.321G>A (p.Pro107=) rs756802962
NM_013382.5(POMT2):c.47C>G (p.Pro16Arg) rs778898705
NM_013382.5(POMT2):c.50G>C (p.Arg17Pro) rs753326186
NM_013382.5(POMT2):c.542C>A (p.Thr181Asn) rs1566657958
NM_013382.5(POMT2):c.559C>T (p.Leu187Phe) rs398124265
NM_013382.5(POMT2):c.593T>A (p.Ile198Asn) rs267606972
NM_013382.5(POMT2):c.613G>A (p.Ala205Thr) rs886043765
NM_013382.5(POMT2):c.621G>A (p.Met207Ile) rs551885065
NM_013382.5(POMT2):c.643T>C (p.Ser215Pro) rs794727722
NM_013382.5(POMT2):c.649G>A (p.Ala217Thr) rs144748043
NM_013382.5(POMT2):c.651C>T (p.Ala217=) rs147845081
NM_013382.5(POMT2):c.656+3C>G rs561052172
NM_013382.5(POMT2):c.659C>T (p.Pro220Leu) rs1555354184
NM_013382.5(POMT2):c.662T>A (p.Phe221Tyr) rs772895807
NM_013382.5(POMT2):c.665C>G (p.Ser222Cys)
NM_013382.5(POMT2):c.66C>T (p.Gly22=) rs200670377
NM_013382.5(POMT2):c.671C>G (p.Pro224Arg)
NM_013382.5(POMT2):c.700G>A (p.Val234Ile) rs576822260
NM_013382.5(POMT2):c.769A>G (p.Thr257Ala) rs371988132
NM_013382.5(POMT2):c.795C>G (p.Phe265Leu) rs765276419
NM_013382.5(POMT2):c.795C>T (p.Phe265=) rs765276419
NM_013382.5(POMT2):c.806G>A (p.Ser269Asn) rs375217032
NM_013382.5(POMT2):c.825G>A (p.Val275=) rs779272258
NM_013382.5(POMT2):c.829A>G (p.Lys277Glu) rs886042829
NM_013382.5(POMT2):c.844C>T (p.Arg282Cys) rs200204831
NM_013382.5(POMT2):c.845G>A (p.Arg282His)
NM_013382.5(POMT2):c.84C>T (p.Ala28=) rs771031903
NM_013382.5(POMT2):c.856C>T (p.Leu286Phe) rs375363915
NM_013382.5(POMT2):c.87A>T (p.Ala29=) rs794726937
NM_013382.5(POMT2):c.884C>T (p.Thr295Ile) rs794727871
NM_013382.5(POMT2):c.890C>T (p.Thr297Ile) rs775548781
NM_013382.5(POMT2):c.891C>A (p.Thr297=) rs769829396
NM_013382.5(POMT2):c.964C>G (p.Arg322Gly) rs746422226

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