ClinVar Miner

List of variants in gene POMT2 reported as benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.1184-47A>C rs2287387 0.51704
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.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.2148-18A>G rs138488805 0.00343

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