ClinVar Miner

List of variants in gene POMT2 reported as benign by Athena Diagnostics Inc

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.1911= (p.Leu637=) rs3209079 0.17887
NM_013382.7(POMT2):c.1383= (p.Arg461=) rs2270419 0.17126
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.03119
NM_013382.7(POMT2):c.652G>A (p.Asp218Asn) rs140785104 0.00496
NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln) rs151078549 0.00333
NM_013382.7(POMT2):c.924-10C>T rs142122657 0.00258
NM_013382.7(POMT2):c.1881G>A (p.Ala627=) rs146588608 0.00158
NM_013382.7(POMT2):c.1683T>C (p.Asn561=) rs146307965 0.00148
NM_013382.7(POMT2):c.1593G>A (p.Leu531=) rs147934334 0.00102
NM_013382.7(POMT2):c.1404A>G (p.Lys468=) rs150491326 0.00043
NM_013382.7(POMT2):c.2127G>A (p.Leu709=) rs138142899 0.00016
NM_013382.7(POMT2):c.648C>T (p.Cys216=) rs147871747 0.00013

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