ClinVar Miner

List of variants in gene AMPD1 reported as benign by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000036.3(AMPD1):c.215+10G>A rs6683173 0.03175
NM_000036.3(AMPD1):c.1224+8G>A rs140176911 0.01045
NM_000036.3(AMPD1):c.1464G>A (p.Glu488=) rs80266556 0.00682
NM_000036.3(AMPD1):c.1975-23T>A rs148592763 0.00625
NM_000036.3(AMPD1):c.1947T>C (p.Asp649=) rs34287100 0.00557
NM_000036.3(AMPD1):c.1845C>T (p.Ile615=) rs34257411 0.00419
NM_000036.3(AMPD1):c.1911C>T (p.Phe637=) rs34778674 0.00417
NM_000036.3(AMPD1):c.99A>G (p.Gly33=) rs61752480 0.00310
NM_000036.3(AMPD1):c.334G>A (p.Val112Met) rs61741025 0.00162
NM_000036.3(AMPD1):c.1122G>A (p.Lys374=) rs138993729 0.00079
NM_000036.3(AMPD1):c.224G>A (p.Arg75His) rs61738827
NM_000036.3(AMPD1):c.382-6del rs727503806

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