ClinVar Miner

List of variants in gene combination DNM1, LOC130002698 reported as likely benign for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_004408.4(DNM1):c.2364G>A (p.Val788=) rs904300233 0.00009
NM_004408.4(DNM1):c.2322G>T (p.Ser774=) rs566718787 0.00003
NM_004408.4(DNM1):c.2310C>T (p.Ala770=) rs1224582228 0.00001
NM_004408.4(DNM1):c.2361C>T (p.Ala787=) rs1041513039 0.00001
NM_004408.4(DNM1):c.2379C>T (p.Pro793=) rs1215135225 0.00001
NM_004408.4(DNM1):c.2271C>G (p.Pro757=) rs762520472
NM_004408.4(DNM1):c.2271C>T (p.Pro757=) rs762520472
NM_004408.4(DNM1):c.2289G>T (p.Leu763=) rs1393047937
NM_004408.4(DNM1):c.2318+14C>A rs1251375115
NM_004408.4(DNM1):c.2319-5C>G rs947802436
NM_004408.4(DNM1):c.2319-5C>T
NM_004408.4(DNM1):c.2319-8G>A
NM_004408.4(DNM1):c.2319-9C>T
NM_004408.4(DNM1):c.2340G>A (p.Thr780=)
NM_004408.4(DNM1):c.2385G>A (p.Ser795=)

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