ClinVar Miner

List of variants in gene MAP3K20 studied for multiple congenital anomalies/dysmorphic syndrome

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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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.748C>T (p.Arg250Trp) rs763481300 0.00002
NM_016653.2(MAP3K20):c.988-4814_1359+60del
NM_016653.3(MAP3K20):c.1103T>G (p.Phe368Cys) rs863225437
NM_016653.3(MAP3K20):c.1360-14_1360-9del rs150855284
NM_016653.3(MAP3K20):c.1592C>A (p.Ser531Ter) rs3769148
NM_016653.3(MAP3K20):c.1592C>T (p.Ser531Leu) rs3769148
NM_016653.3(MAP3K20):c.282dup (p.Asn95Ter) rs1553576774
NM_016653.3(MAP3K20):c.817T>C (p.Cys273Arg) rs1683820514

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