ClinVar Miner

List of variants in gene SDK2 studied for SDK2-related disorder

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Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001144952.2(SDK2):c.4289C>G (p.Ser1430Cys) rs2270724 0.00923
NM_001144952.2(SDK2):c.4371T>C (p.Asn1457=) rs115502230 0.00921
NM_001144952.2(SDK2):c.4506T>C (p.Asp1502=) rs78185984 0.00919
NM_001144952.2(SDK2):c.4200G>A (p.Pro1400=) rs139527427 0.00914
NM_001144952.2(SDK2):c.4809C>T (p.Asn1603=) rs78145056 0.00429
NM_001144952.2(SDK2):c.2880G>A (p.Ala960=) rs114429753 0.00413
NM_001144952.2(SDK2):c.9G>A (p.Gly3=) rs145194705 0.00322
NM_001144952.2(SDK2):c.4908G>A (p.Thr1636=) rs139388742 0.00171
NM_001144952.2(SDK2):c.2804A>G (p.Tyr935Cys) rs137921116 0.00143
NM_001144952.2(SDK2):c.6455G>A (p.Arg2152His) rs147236031 0.00120
NM_001144952.2(SDK2):c.5462G>A (p.Gly1821Glu) rs138527765 0.00119
NM_001144952.2(SDK2):c.2338A>G (p.Ser780Gly) rs139142614 0.00118
NM_001144952.2(SDK2):c.2821C>T (p.Arg941Cys) rs143280778 0.00114
NM_001144952.2(SDK2):c.2810G>A (p.Arg937Gln) rs144141099 0.00098
NM_001144952.2(SDK2):c.2747A>G (p.Gln916Arg) rs138152327 0.00094
NM_001144952.2(SDK2):c.4763-5C>A rs183962646 0.00070
NM_001144952.2(SDK2):c.613+8C>T rs192088977 0.00069
NM_001144952.2(SDK2):c.776C>T (p.Ser259Leu) rs146398103 0.00042
NM_001144952.2(SDK2):c.4071C>A (p.Ala1357=) rs371257799 0.00038
NM_001144952.2(SDK2):c.480-9T>C rs146800026 0.00038
NM_001144952.2(SDK2):c.4272A>G (p.Pro1424=) rs200242323 0.00034
NM_001144952.2(SDK2):c.2940C>T (p.Ser980=) rs201256089 0.00014
NM_001144952.2(SDK2):c.1369T>C (p.Ser457Pro) rs200185560 0.00013
NM_001144952.2(SDK2):c.6165+5G>C rs374117631 0.00013
NM_001144952.2(SDK2):c.2820C>G (p.Thr940=) rs146716999 0.00011
NM_001144952.2(SDK2):c.3176C>T (p.Pro1059Leu) rs141892877 0.00010
NM_001144952.2(SDK2):c.3405G>A (p.Lys1135=) rs751184995 0.00008
NM_001144952.2(SDK2):c.4785C>T (p.Tyr1595=) rs141328074 0.00008
NM_001144952.2(SDK2):c.3898+9G>A rs202096378 0.00007
NM_001144952.2(SDK2):c.5724C>T (p.Phe1908=) rs373715499 0.00007
NM_001144952.2(SDK2):c.2484+6T>C rs202154952 0.00003
NM_001144952.2(SDK2):c.2361G>A (p.Leu787=) rs1334771323 0.00002
NM_001144952.2(SDK2):c.3765C>A (p.Gly1255=) rs758072685 0.00002
NM_001144952.2(SDK2):c.729C>G (p.Pro243=) rs769788820 0.00002
NM_001144952.2(SDK2):c.1554A>T (p.Gly518=) rs746680495 0.00001
NM_001144952.2(SDK2):c.4923C>T (p.Asp1641=) rs778945510 0.00001
NM_001144952.2(SDK2):c.2448C>A (p.Ser816Arg) rs143251430
NM_001144952.2(SDK2):c.3567G>A (p.Thr1189=) rs375688906
NM_001144952.2(SDK2):c.3899-4C>G rs749063119
NM_001144952.2(SDK2):c.4130C>G (p.Ala1377Gly) rs2511331279
NM_001144952.2(SDK2):c.4410G>A (p.Thr1470=) rs371894396
NM_001144952.2(SDK2):c.4533G>A (p.Thr1511=) rs117291342
NM_001144952.2(SDK2):c.4706-3T>A rs2062825575
NM_001144952.2(SDK2):c.4922A>T (p.Asp1641Val)
NM_001144952.2(SDK2):c.5901G>C (p.Gly1967=) rs35317925
NM_001144952.2(SDK2):c.6114T>C (p.Pro2038=) rs547010993
NM_001144952.2(SDK2):c.96T>G (p.Pro32=)

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