ClinVar Miner

List of variants in gene POMT2 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.1484+95A>G rs3815625 0.83173
NM_013382.7(POMT2):c.1653+83A>C rs2216089 0.52276
NM_013382.7(POMT2):c.1184-47A>C rs2287387 0.51460
NM_013382.7(POMT2):c.1007-256G>A rs3783986 0.41362
NM_013382.7(POMT2):c.1654-217A>G rs2098380 0.33145
NM_013382.7(POMT2):c.547+201T>C rs3815626 0.32806
NM_013382.7(POMT2):c.1891+54A>G rs11625197 0.24478
NM_013382.7(POMT2):c.816+51T>C rs2287392 0.23620
NM_013382.7(POMT2):c.817-121C>T rs2287389 0.23536
NM_013382.7(POMT2):c.817-123T>C rs2287390 0.23518
NM_013382.7(POMT2):c.1006+261C>T rs2287388 0.23064
NM_013382.7(POMT2):c.1892-164C>T rs61990291 0.22317
NM_013382.7(POMT2):c.*75C>T rs1055592 0.20469
NM_013382.7(POMT2):c.1911= (p.Leu637=) rs3209079 0.17887
NM_013382.7(POMT2):c.1383= (p.Arg461=) rs2270419 0.17174
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14051
NM_013382.7(POMT2):c.1786-39C>T rs438931 0.12941
NM_013382.7(POMT2):c.1117-20C>T rs7153929 0.11307
NM_013382.7(POMT2):c.1006+212A>G rs73311328 0.10410
NM_013382.7(POMT2):c.1653+266C>T rs7159378 0.10361
NM_013382.7(POMT2):c.1007-282T>C rs55687913 0.08644
NM_013382.7(POMT2):c.1116+165C>T rs67600987 0.08617
NM_013382.7(POMT2):c.334-45T>C rs66502123 0.08383
NM_013382.7(POMT2):c.249-109A>G rs61442105 0.06033
NM_013382.7(POMT2):c.1484+136T>C rs58212324 0.05768
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_013382.7(POMT2):c.1007-346G>A rs75809249 0.05373
NM_013382.7(POMT2):c.438+81C>T rs3815627 0.05217
NM_013382.7(POMT2):c.2147+147G>A rs60626204 0.04243
NM_013382.7(POMT2):c.248+108C>A rs11629257 0.04110
NM_013382.7(POMT2):c.1891+49C>T rs61990292 0.04092
NM_013382.7(POMT2):c.1184-152C>T rs76350342 0.03599
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.02889
NM_013382.7(POMT2):c.1576+55C>T rs78002771 0.02868
NM_013382.7(POMT2):c.438+267A>G rs78314442 0.02744
NM_013382.7(POMT2):c.923+341A>G rs59556316 0.01637
NM_013382.7(POMT2):c.1007-88A>G rs74065604 0.01587
NM_013382.7(POMT2):c.2175C>T (p.Tyr725=) rs116434191 0.00610
NM_013382.7(POMT2):c.1183+14A>G rs80099135 0.00565
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.1881G>A (p.Ala627=) rs146588608 0.00158
NM_013382.7(POMT2):c.1701C>G (p.Pro567=) rs151051452 0.00058
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp) rs117173425 0.00056
NM_013382.7(POMT2):c.1006+148C>T rs7143099
NM_013382.7(POMT2):c.1007-331_1007-329dup rs3837647
NM_013382.7(POMT2):c.1116+243T>G rs11627257
NM_013382.7(POMT2):c.1654-248_1654-242dup rs112591735
NM_013382.7(POMT2):c.248+151G>A rs8177535
NM_013382.7(POMT2):c.438+159A>T rs79436695
NM_013382.7(POMT2):c.656+136dup rs3217186
NM_013382.7(POMT2):c.816+257_816+258dup rs748794664
NM_013382.7(POMT2):c.816+257dup rs748794664

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