ClinVar Miner

List of variants in gene MAP3K20 studied for congenital myopathy

Included ClinVar conditions (289):
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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_016653.3(MAP3K20):c.670-11G>C rs11899707 0.98158
NM_016653.3(MAP3K20):c.1360-28A>G rs820008 0.72578
NM_016653.3(MAP3K20):c.445-37A>G rs2289399 0.30550
NM_016653.3(MAP3K20):c.1032+39G>A rs16861404 0.26026
NM_016653.3(MAP3K20):c.490_491del (p.Met164fs) rs1293675104 0.00001
NM_016653.3(MAP3K20):c.1360-14_1360-9del rs150855284
NM_016653.3(MAP3K20):c.1592C>T (p.Ser531Leu) rs3769148
NM_016653.3(MAP3K20):c.282dup (p.Asn95Ter) rs1553576774
NM_016653.3(MAP3K20):c.515G>A (p.Trp172Ter) rs1553578407

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