ClinVar Miner

List of variants in gene POMT2 reported as benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 13
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NM_013382.5(POMT2):c.1007-32G>A rs79509556
NM_013382.5(POMT2):c.1117-20C>T rs7153929
NM_013382.5(POMT2):c.1262G>A (p.Arg421Gln) rs151078549
NM_013382.5(POMT2):c.161C>A (p.Ala54Glu) rs8177536
NM_013382.5(POMT2):c.1683T>C (p.Asn561=) rs146307965
NM_013382.5(POMT2):c.1881G>A (p.Ala627=) rs146588608
NM_013382.5(POMT2):c.1891+49C>T rs61990292
NM_013382.5(POMT2):c.652G>A (p.Asp218Asn) rs140785104
NM_013382.5(POMT2):c.924-10C>T rs142122657
NM_013382.7(POMT2):c.1383G>A (p.Arg461=) rs2270419
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420
NM_013382.7(POMT2):c.1654-6A>G rs4540995
NM_013382.7(POMT2):c.1911T>G (p.Leu637=) rs3209079

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