ClinVar Miner

List of variants in gene POMT2 reported as benign for not specified

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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.1383G>A (p.Arg461=) rs2270419 0.82874
NM_013382.7(POMT2):c.1911T>G (p.Leu637=) rs3209079 0.82113
NM_013382.7(POMT2):c.1184-47A>C rs2287387 0.51704
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.1117-20C>T rs7153929 0.11460
NM_013382.7(POMT2):c.334-45T>C rs66502123 0.08383
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_013382.7(POMT2):c.1891+49C>T rs61990292 0.04323
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.03119
NM_013382.7(POMT2):c.1007-32G>A rs79509556 0.02044
NM_013382.7(POMT2):c.1116+35A>G rs2302831 0.01815
NM_013382.7(POMT2):c.1654-41G>C rs71413457 0.01621
NM_013382.7(POMT2):c.2175C>T (p.Tyr725=) rs116434191 0.00658
NM_013382.7(POMT2):c.1183+14A>G rs80099135 0.00613
NM_013382.7(POMT2):c.652G>A (p.Asp218Asn) rs140785104 0.00496
NM_013382.7(POMT2):c.2148-18A>G rs138488805 0.00343
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.1701C>G (p.Pro567=) rs151051452 0.00062
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp) rs117173425 0.00056
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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