ClinVar Miner

List of variants in gene DNA2 studied for congenital myopathy

Included ClinVar conditions (289):
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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001080449.3(DNA2):c.507C>A (p.Ala169=) rs3758626 0.28903
NM_001080449.3(DNA2):c.888G>A (p.Pro296=) rs16925390 0.01237
NM_001080449.3(DNA2):c.1649A>G (p.Asn550Ser) rs141731085 0.00726
NM_001080449.3(DNA2):c.295T>C (p.Leu99=) rs140077857 0.00675
NM_001080449.3(DNA2):c.1909G>A (p.Val637Ile) rs746522359 0.00006
NM_001080449.3(DNA2):c.411G>C (p.Met137Ile) rs760968251 0.00001
NM_001080449.3(DNA2):c.593G>A (p.Arg198His) rs1272393477 0.00001
NM_001080449.3(DNA2):c.679A>G (p.Lys227Glu) rs760412883 0.00001
NM_001080449.3(DNA2):c.1057+19del rs34922453
NM_001080449.3(DNA2):c.1213T>C (p.Tyr405His) rs2133402393
NM_001080449.3(DNA2):c.1450del (p.Arg484fs) rs2133386949
NM_001080449.3(DNA2):c.1462G>A (p.Val488Ile)
NM_001080449.3(DNA2):c.1644_1647del (p.Asp548fs) rs768077989
NM_001080449.3(DNA2):c.1919C>T (p.Ser640Leu) rs1590054876
NM_001080449.3(DNA2):c.2219C>G (p.Ala740Gly) rs2051684928
NM_001080449.3(DNA2):c.2430C>G (p.Phe810Leu) rs73274785
NM_001080449.3(DNA2):c.2546G>T (p.Gly849Val) rs2133361857
NM_001080449.3(DNA2):c.2697+13del rs370068890
NM_001080449.3(DNA2):c.3014C>T (p.Thr1005Ile) rs376624048
NM_001080449.3(DNA2):c.662C>G (p.Ala221Gly) rs751031650
NM_001080449.3(DNA2):c.707T>C (p.Met236Thr) rs759464271
NM_001080449.3(DNA2):c.720-4del rs34191745
NM_001080449.3(DNA2):c.876C>A (p.Tyr292Ter)
NM_001080449.3(DNA2):c.940-1G>A rs1590064469

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