ClinVar Miner

List of variants in gene combination INSL6, JAK2 reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP
NM_001322194.1(JAK2):c.*1291_*1292GT[17] rs139964957
NM_001322194.1(JAK2):c.*1291_*1292GT[18] rs139964957
NM_001322194.1(JAK2):c.*1291_*1292GT[19] rs139964957
NM_001322194.1(JAK2):c.*1291_*1292GT[23] rs139964957
NM_001322194.1(JAK2):c.*91_*93TAT[1] rs1057515594
NM_004972.3(JAK2):c.*1117T>C rs1057515595
NM_004972.3(JAK2):c.*1118T>C rs564550648
NM_004972.3(JAK2):c.*1145G>A rs113064951
NM_004972.3(JAK2):c.*1185A>C rs567730823
NM_004972.3(JAK2):c.*122G>A rs41314565
NM_004972.3(JAK2):c.*1288_*1289insGT rs1057515597
NM_004972.3(JAK2):c.*1289T>G rs1057515598
NM_004972.3(JAK2):c.*1337T>C rs1057515601
NM_004972.3(JAK2):c.*1351T>C rs1057515602
NM_004972.3(JAK2):c.*1388_*1392dup rs1038207109
NM_004972.3(JAK2):c.*1390T>G rs1057515604
NM_004972.3(JAK2):c.*158G>C rs577084695
NM_004972.3(JAK2):c.*317A>G rs527841946
NM_004972.3(JAK2):c.*34T>C rs141017338
NM_004972.3(JAK2):c.*389T>C rs41303215
NM_004972.3(JAK2):c.*52A>G rs144726392
NM_004972.3(JAK2):c.*560C>T rs183352264
NM_004972.3(JAK2):c.1326+15C>G rs750388462
NM_004972.3(JAK2):c.143G>A (p.Gly48Glu) rs143227399
NM_004972.3(JAK2):c.1470T>C (p.Asn490=) rs1057515592
NM_004972.3(JAK2):c.2171T>C (p.Ile724Thr) rs372254348
NM_004972.3(JAK2):c.2196G>A (p.Leu732=) rs145273013
NM_004972.3(JAK2):c.2762-10_2762-9del rs529050943
NM_004972.3(JAK2):c.2931G>A (p.Leu977=) rs55930140
NM_004972.3(JAK2):c.2958C>T (p.Asn986=) rs55873896
NM_004972.3(JAK2):c.3076C>A (p.Leu1026Met) rs774801005
NM_004972.3(JAK2):c.3177G>A (p.Ala1059=) rs374744702
NM_004972.3(JAK2):c.3252T>C (p.Asn1084=) rs140219534
NM_004972.3(JAK2):c.337C>G (p.Leu113Val) rs143103233
NM_004972.3(JAK2):c.592C>T (p.Leu198=) rs559371331
NM_004972.3(JAK2):c.726A>G (p.Gln242=) rs149863951

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