List of variants in gene DNM1L reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_012062.5(DNM1L):c.1588C>T (p.Arg530Ter)	rs1439786424	0.00003
NM_012062.5(DNM1L):c.1596+2T>A	rs769684495	0.00001
NM_012062.5(DNM1L):c.1674+1G>A	rs201259747	0.00001
NM_012062.5(DNM1L):c.1030T>C (p.Tyr344His)	rs2137445950
NM_012062.5(DNM1L):c.1091C>A (p.Ala364Asp)	rs1592661947
NM_012062.5(DNM1L):c.1099T>C (p.Cys367Arg)	rs2137520997
NM_012062.5(DNM1L):c.116G>A (p.Ser39Asn)	rs2540980636
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)	rs863223953
NM_012062.5(DNM1L):c.1487C>G (p.Thr496Arg)	rs2541091574
NM_012062.5(DNM1L):c.1674+2T>A	rs2541110091
NM_012062.5(DNM1L):c.2094TCT[1] (p.Leu700del)	rs2137612089
NM_012062.5(DNM1L):c.25_28delinsCACT (p.Asn9_Lys10delinsHisTer)	rs1555229978
NM_012062.5(DNM1L):c.297+1G>A	rs2540998650
NM_012062.5(DNM1L):c.298-1G>C
NM_012062.5(DNM1L):c.344_349del (p.Thr115_Glu116del)	rs2541000749
NM_012062.5(DNM1L):c.445G>A (p.Gly149Arg)	rs2541008058
NM_012062.5(DNM1L):c.457-2A>G	rs2137372686
NM_012062.5(DNM1L):c.873-9_873-1del	rs2541045553

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