ClinVar Miner

List of variants in gene POMT2 reported as pathogenic for not provided

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Gene type:
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Total variants: 20
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HGVS dbSNP
NM_013382.5(POMT2):c.1006+1G>A rs533916138
NM_013382.5(POMT2):c.1006+1delG rs1064796019
NM_013382.5(POMT2):c.1045_1052delinsG (p.Arg349fs) rs886042094
NM_013382.5(POMT2):c.1123_1124dup (p.Tyr376fs) rs886042401
NM_013382.5(POMT2):c.1261C>T rs727502855
NM_013382.5(POMT2):c.1417C>T (p.Arg473Ter) rs368817785
NM_013382.5(POMT2):c.1484+1G>T rs727502857
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.1997A>G (p.Tyr666Cys) rs200198778
NM_013382.5(POMT2):c.248+2T>C rs1326631351
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.639C>A (p.Tyr213Ter) rs764878423
NM_013382.5(POMT2):c.672del (p.Trp225fs) rs1566656247
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

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