ClinVar Miner

List of variants in gene POMT2 reported as pathogenic

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Total variants: 38
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HGVS dbSNP
NM_013382.5(POMT2):c.1006+1G>A rs533916138
NM_013382.5(POMT2):c.1006+1del rs1064796019
NM_013382.5(POMT2):c.1045_1052delinsG (p.Arg349fs) rs886042094
NM_013382.5(POMT2):c.1057G>A (p.Gly353Ser) rs267606970
NM_013382.5(POMT2):c.1117G>T (p.Val373Phe) rs267606965
NM_013382.5(POMT2):c.1123_1124dup (p.Tyr376fs) rs886042401
NM_013382.5(POMT2):c.1238G>C (p.Arg413Pro) rs190285831
NM_013382.5(POMT2):c.1261C>T rs727502855
NM_013382.5(POMT2):c.1261del (p.Arg421fs) rs587777815
NM_013382.5(POMT2):c.1293dup (p.Met432fs) rs1555352706
NM_013382.5(POMT2):c.1417C>T (p.Arg473Ter) rs368817785
NM_013382.5(POMT2):c.1445G>T (p.Gly482Val) rs267606968
NM_013382.5(POMT2):c.1484+1G>T rs727502857
NM_013382.5(POMT2):c.1577-5_1577-1delinsTGA rs797045898
NM_013382.5(POMT2):c.1658dup (p.Asn553fs) rs886043110
NM_013382.5(POMT2):c.1726-2A>G rs727503873
NM_013382.5(POMT2):c.1762C>T (p.Arg588Ter) rs766169193
NM_013382.5(POMT2):c.1912C>T (p.Arg638Ter) rs119463989
NM_013382.5(POMT2):c.1941G>A (p.Trp647Ter) rs267606963
NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778
NM_013382.5(POMT2):c.2177G>A (p.Gly726Glu) rs267606969
NM_013382.5(POMT2):c.2242T>C (p.Trp748Arg) rs267606964
NM_013382.5(POMT2):c.2243G>C (p.Trp748Ser) rs267606967
NM_013382.5(POMT2):c.248+2T>C rs1326631351
NM_013382.5(POMT2):c.248+5G>C rs587777816
NM_013382.5(POMT2):c.462G>A (p.Trp154Ter) rs1085307985
NM_013382.5(POMT2):c.551C>T (p.Thr184Met) rs267606971
NM_013382.5(POMT2):c.593T>A (p.Ile198Asn) rs267606972
NM_013382.5(POMT2):c.639C>A (p.Tyr213Ter) rs764878423
NM_013382.5(POMT2):c.648C>A (p.Cys216Ter) rs147871747
NM_013382.5(POMT2):c.672del (p.Trp225fs) rs1566656247
NM_013382.5(POMT2):c.673del (p.Trp225fs)
NM_013382.5(POMT2):c.678del (p.Trp226fs) rs755660222
NM_013382.5(POMT2):c.737G>A (p.Gly246Asp) rs267606966
NM_013382.5(POMT2):c.924-2A>C rs886044256
NM_013382.5(POMT2):c.924-2A>G rs886044256
NM_013382.5(POMT2):c.958C>T (p.Gln320Ter) rs775932206
POMT2, IVS12AS, G-A, -14

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