ClinVar Miner

List of variants in gene POMT2 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.1045C>T (p.Arg349Trp) rs141339355 0.00083
NM_013382.7(POMT2):c.1935C>T (p.Leu645=) rs141193672 0.00066
NM_013382.7(POMT2):c.649G>A (p.Ala217Thr) rs144748043 0.00065
NM_013382.7(POMT2):c.1701C>G (p.Pro567=) rs151051452 0.00062
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile) rs142299878 0.00061
NM_013382.7(POMT2):c.229G>A (p.Asp77Asn) rs200992827 0.00051
NM_013382.7(POMT2):c.1404A>G (p.Lys468=) rs150491326 0.00043
NM_013382.7(POMT2):c.2086C>A (p.Pro696Thr) rs76700503 0.00041
NM_013382.7(POMT2):c.66C>T (p.Gly22=) rs200670377 0.00027
NM_013382.7(POMT2):c.806G>A (p.Ser269Asn) rs375217032 0.00026
NM_013382.7(POMT2):c.1691C>T (p.Thr564Met) rs142445941 0.00023
NM_013382.7(POMT2):c.293A>G (p.Asn98Ser) rs368034790 0.00022
NM_013382.7(POMT2):c.1206A>C (p.Pro402=) rs142479943 0.00016
NM_013382.7(POMT2):c.1321G>A (p.Gly441Ser) rs199743727 0.00016
NM_013382.7(POMT2):c.656+3C>G rs561052172 0.00015
NM_013382.7(POMT2):c.1920C>T (p.Gly640=) rs150755807 0.00013
NM_013382.7(POMT2):c.1363C>T (p.Arg455Trp) rs398124261 0.00010
NM_013382.7(POMT2):c.844C>T (p.Arg282Cys) rs200204831 0.00009
NM_013382.7(POMT2):c.1141T>C (p.Tyr381His) rs369489033 0.00008
NM_013382.7(POMT2):c.1386A>C (p.Lys462Asn) rs567557121 0.00008
NM_013382.7(POMT2):c.1485-3C>T rs754892193 0.00006
NM_013382.7(POMT2):c.1726-9A>G rs747493997 0.00006
NM_013382.7(POMT2):c.1871G>A (p.Arg624Gln) rs369365744 0.00006
NM_013382.7(POMT2):c.621G>A (p.Met207Ile) rs551885065 0.00005
NM_013382.7(POMT2):c.1017C>T (p.Tyr339=) rs1026361359 0.00004
NM_013382.7(POMT2):c.1106G>A (p.Arg369His) rs398124260 0.00004
NM_013382.7(POMT2):c.128A>G (p.Lys43Arg) rs745417690 0.00004
NM_013382.7(POMT2):c.1485-4A>C rs794727127 0.00004
NM_013382.7(POMT2):c.1732C>T (p.Arg578Cys) rs148466370 0.00004
NM_013382.7(POMT2):c.1785G>A (p.Pro595=) rs202237807 0.00004
NM_013382.7(POMT2):c.1094G>A (p.Gly365Asp) rs139830891 0.00003
NM_013382.7(POMT2):c.1290C>T (p.Ala430=) rs886043974 0.00003
NM_013382.7(POMT2):c.1743G>A (p.Gly581=) rs755254043 0.00003
NM_013382.7(POMT2):c.2072G>T (p.Gly691Val) rs758678348 0.00003
NM_013382.7(POMT2):c.795C>T (p.Phe265=) rs765276419 0.00003
NM_013382.7(POMT2):c.1006+5G>A rs587780422 0.00002
NM_013382.7(POMT2):c.1006C>T (p.His336Tyr) rs765103940 0.00002
NM_013382.7(POMT2):c.1046G>A (p.Arg349Gln) rs756055923 0.00002
NM_013382.7(POMT2):c.1192G>C (p.Asp398His) rs145933402 0.00002
NM_013382.7(POMT2):c.1620G>A (p.Glu540=) rs886043258 0.00002
NM_013382.7(POMT2):c.1651C>T (p.Arg551Trp) rs751153662 0.00002
NM_013382.7(POMT2):c.1654-8T>G rs780532724 0.00002
NM_013382.7(POMT2):c.1711C>T (p.Pro571Ser) rs771812476 0.00002
NM_013382.7(POMT2):c.1977G>C (p.Arg659=) rs746640722 0.00002
NM_013382.7(POMT2):c.320C>T (p.Pro107Leu) rs398124264 0.00002
NM_013382.7(POMT2):c.856C>T (p.Leu286Phe) rs375363915 0.00002
NM_013382.7(POMT2):c.1033G>C (p.Val345Leu) rs779053591 0.00001
NM_013382.7(POMT2):c.106G>C (p.Glu36Gln) rs974410008 0.00001
NM_013382.7(POMT2):c.1080C>T (p.His360=) rs776866129 0.00001
NM_013382.7(POMT2):c.1116+4A>G rs779844724 0.00001
NM_013382.7(POMT2):c.1229A>T (p.Asp410Val) rs886043224 0.00001
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro) rs190285831 0.00001
NM_013382.7(POMT2):c.124C>T (p.Pro42Ser) rs1350511523 0.00001
NM_013382.7(POMT2):c.1407G>T (p.Val469=) rs886042679 0.00001
NM_013382.7(POMT2):c.1699C>T (p.Pro567Ser) rs727502858 0.00001
NM_013382.7(POMT2):c.1786-8C>T rs953851097 0.00001
NM_013382.7(POMT2):c.1824C>T (p.Tyr608=) rs759220971 0.00001
NM_013382.7(POMT2):c.1835G>T (p.Gly612Val) rs772405371 0.00001
NM_013382.7(POMT2):c.1870C>T (p.Arg624Trp) rs749335757 0.00001
NM_013382.7(POMT2):c.1877C>T (p.Pro626Leu) rs1262591820 0.00001
NM_013382.7(POMT2):c.2085G>T (p.Trp695Cys) rs398124263 0.00001
NM_013382.7(POMT2):c.2147+9C>T rs1253447533 0.00001
NM_013382.7(POMT2):c.295C>T (p.Arg99Cys) rs199719668 0.00001
NM_013382.7(POMT2):c.47C>G (p.Pro16Arg) rs778898705 0.00001
NM_013382.7(POMT2):c.50G>C (p.Arg17Pro) rs753326186 0.00001
NM_013382.7(POMT2):c.593T>A (p.Ile198Asn) rs267606972 0.00001
NM_013382.7(POMT2):c.613G>A (p.Ala205Thr) rs886043765 0.00001
NM_013382.7(POMT2):c.651C>T (p.Ala217=) rs147845081 0.00001
NM_013382.7(POMT2):c.825G>A (p.Val275=) rs779272258 0.00001
NM_013382.7(POMT2):c.829A>G (p.Lys277Glu) rs886042829 0.00001
NM_013382.7(POMT2):c.845G>A (p.Arg282His) rs756132642 0.00001
NM_013382.7(POMT2):c.84C>T (p.Ala28=) rs771031903 0.00001
NM_013382.7(POMT2):c.890C>T (p.Thr297Ile) rs775548781 0.00001
NM_013382.7(POMT2):c.891C>A (p.Thr297=) rs769829396 0.00001
NM_013382.5(POMT2):c.1478C>T (p.Pro493Leu) rs727503874
NM_013382.7(POMT2):c.102C>G (p.Ala34=) rs886044233
NM_013382.7(POMT2):c.1117-7C>G rs201921627
NM_013382.7(POMT2):c.1306C>T (p.His436Tyr) rs779571965
NM_013382.7(POMT2):c.1332+6_1332+9del rs781093215
NM_013382.7(POMT2):c.1396C>A (p.Arg466=) rs763119319
NM_013382.7(POMT2):c.1558G>A (p.Asp520Asn) rs886043915
NM_013382.7(POMT2):c.1568A>C (p.Asn523Thr) rs886042386
NM_013382.7(POMT2):c.169T>G (p.Trp57Gly) rs1566666666
NM_013382.7(POMT2):c.1726-9A>T rs747493997
NM_013382.7(POMT2):c.1757A>G (p.Asp586Gly) rs1566644193
NM_013382.7(POMT2):c.1785G>C (p.Pro595=) rs202237807
NM_013382.7(POMT2):c.1805T>C (p.Leu602Pro) rs1566643981
NM_013382.7(POMT2):c.1895T>C (p.Leu632Ser) rs398124262
NM_013382.7(POMT2):c.1958C>T (p.Pro653Leu) rs794727228
NM_013382.7(POMT2):c.2083T>C (p.Trp695Arg) rs139308429
NM_013382.7(POMT2):c.2086C>T (p.Pro696Ser) rs76700503
NM_013382.7(POMT2):c.2092G>C (p.Ala698Pro) rs1434643039
NM_013382.7(POMT2):c.2107G>C (p.Val703Leu) rs1183341063
NM_013382.7(POMT2):c.2147+2T>G rs1555351620
NM_013382.7(POMT2):c.2197del (p.Gln733fs) rs1292248431
NM_013382.7(POMT2):c.2223A>G (p.Gly741=) rs554801559
NM_013382.7(POMT2):c.224G>C (p.Arg75Pro) rs1200964688
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.7(POMT2):c.293A>C (p.Asn98Thr) rs368034790
NM_013382.7(POMT2):c.321G>A (p.Pro107=) rs756802962
NM_013382.7(POMT2):c.542C>A (p.Thr181Asn) rs1566657958
NM_013382.7(POMT2):c.559C>T (p.Leu187Phe) rs398124265
NM_013382.7(POMT2):c.643T>C (p.Ser215Pro) rs794727722
NM_013382.7(POMT2):c.795C>G (p.Phe265Leu) rs765276419
NM_013382.7(POMT2):c.87A>T (p.Ala29=) rs794726937
NM_013382.7(POMT2):c.884C>T (p.Thr295Ile) rs794727871
NM_013382.7(POMT2):c.964C>G (p.Arg322Gly) rs746422226

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