ClinVar Miner

List of variants in gene POMT2 reported as uncertain significance by Invitae

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Gene type:
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Total variants: 76
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HGVS dbSNP
NM_013382.5(POMT2):c.1006+4_1006+7delAGTG
NM_013382.5(POMT2):c.1012G>A (p.Ala338Thr) rs771636400
NM_013382.5(POMT2):c.1030A>C (p.Thr344Pro) rs1285454398
NM_013382.5(POMT2):c.1042C>G (p.Leu348Val) rs1158227625
NM_013382.5(POMT2):c.1094G>A (p.Gly365Asp)
NM_013382.5(POMT2):c.1124C>T (p.Thr375Ile)
NM_013382.5(POMT2):c.1141T>C (p.Tyr381His) rs369489033
NM_013382.5(POMT2):c.1142A>G (p.Tyr381Cys)
NM_013382.5(POMT2):c.1186C>T (p.Pro396Ser) rs764723711
NM_013382.5(POMT2):c.1223A>G (p.His408Arg)
NM_013382.5(POMT2):c.1250A>G (p.Lys417Arg) rs147268052
NM_013382.5(POMT2):c.1261C>T rs727502855
NM_013382.5(POMT2):c.1274G>C (p.Ser425Thr)
NM_013382.5(POMT2):c.1282_1284del (p.His428del)
NM_013382.5(POMT2):c.128A>G (p.Lys43Arg) rs745417690
NM_013382.5(POMT2):c.1300C>T (p.Arg434Trp)
NM_013382.5(POMT2):c.133C>T (p.Pro45Ser)
NM_013382.5(POMT2):c.134C>G (p.Pro45Arg) rs753037500
NM_013382.5(POMT2):c.1396C>T (p.Arg466Trp) rs763119319
NM_013382.5(POMT2):c.1397G>A (p.Arg466Gln) rs138266415
NM_013382.5(POMT2):c.1424G>A (p.Arg475His)
NM_013382.5(POMT2):c.1467A>T (p.Gly489=) rs1555352583
NM_013382.5(POMT2):c.148C>G (p.Arg50Gly) rs550420394
NM_013382.5(POMT2):c.14C>G (p.Thr5Arg)
NM_013382.5(POMT2):c.1540T>A (p.Ser514Thr) rs1566647081
NM_013382.5(POMT2):c.1552G>A (p.Val518Met) rs200762716
NM_013382.5(POMT2):c.1604A>T (p.Gln535Leu)
NM_013382.5(POMT2):c.160G>T (p.Ala54Ser) rs1239345534
NM_013382.5(POMT2):c.1645A>G (p.Met549Val) rs1555352401
NM_013382.5(POMT2):c.1651C>T (p.Arg551Trp) rs751153662
NM_013382.5(POMT2):c.1653+4T>G
NM_013382.5(POMT2):c.1654-8T>G rs780532724
NM_013382.5(POMT2):c.1691C>T (p.Thr564Met) rs142445941
NM_013382.5(POMT2):c.1711C>T (p.Pro571Ser) rs771812476
NM_013382.5(POMT2):c.1732C>T (p.Arg578Cys) rs148466370
NM_013382.5(POMT2):c.1790T>C (p.Val597Ala) rs1171196217
NM_013382.5(POMT2):c.1828C>T (p.Leu610Phe) rs1555351859
NM_013382.5(POMT2):c.1857G>C (p.Met619Ile)
NM_013382.5(POMT2):c.1871G>A (p.Arg624Gln) rs369365744
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.1958C>T (p.Pro653Leu) rs794727228
NM_013382.5(POMT2):c.1975C>T (p.Arg659Trp)
NM_013382.5(POMT2):c.2085_2086delinsTT (p.Trp695_Pro696delinsCysSer) rs1566642523
NM_013382.5(POMT2):c.2087C>T (p.Pro696Leu) rs1449000965
NM_013382.5(POMT2):c.2111C>T (p.Ala704Val)
NM_013382.5(POMT2):c.2148-6T>A rs1242617887
NM_013382.5(POMT2):c.2182G>A (p.Val728Ile) rs1367401943
NM_013382.5(POMT2):c.2228G>T (p.Arg743Met) rs767359121
NM_013382.5(POMT2):c.2242T>C (p.Trp748Arg) rs267606964
NM_013382.5(POMT2):c.2251T>C (p.Ter751Arg)
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.242A>G (p.His81Arg)
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.29C>T (p.Ala10Val) rs183558313
NM_013382.5(POMT2):c.320C>T (p.Pro107Leu) rs398124264
NM_013382.5(POMT2):c.322C>T (p.Pro108Ser) rs1555355402
NM_013382.5(POMT2):c.344G>C (p.Gly115Ala)
NM_013382.5(POMT2):c.346C>T (p.Leu116Phe)
NM_013382.5(POMT2):c.416A>G (p.His139Arg)
NM_013382.5(POMT2):c.47C>G (p.Pro16Arg) rs778898705
NM_013382.5(POMT2):c.50G>A (p.Arg17Gln)
NM_013382.5(POMT2):c.50G>C (p.Arg17Pro) rs753326186
NM_013382.5(POMT2):c.586G>A (p.Asp196Asn) rs1200584567
NM_013382.5(POMT2):c.599T>C (p.Met200Thr)
NM_013382.5(POMT2):c.621G>A (p.Met207Ile) rs551885065
NM_013382.5(POMT2):c.640A>C (p.Asn214His)
NM_013382.5(POMT2):c.642C>A (p.Asn214Lys)
NM_013382.5(POMT2):c.656+3C>G rs561052172
NM_013382.5(POMT2):c.658C>T (p.Pro220Ser)
NM_013382.5(POMT2):c.685C>T (p.Leu229Phe)
NM_013382.5(POMT2):c.825G>A (p.Val275=) rs779272258
NM_013382.5(POMT2):c.845G>A (p.Arg282His)
NM_013382.5(POMT2):c.884C>G (p.Thr295Arg)

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