ClinVar Miner

List of variants studied for oocyte maturation defect 2

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_177987.3(TUBB8):c.-51G>A rs6560830 0.96261
NM_177987.3(TUBB8):c.278-82G>A rs4607995 0.81613
NM_177987.3(TUBB8):c.277+10G>A rs10904047 0.74067
NM_177987.3(TUBB8):c.729G>A (p.Pro243=) rs6560827 0.71701
NM_177987.2(TUBB8):c.-175C>T rs4320883 0.70661
NM_177987.3(TUBB8):c.58-20T>G rs11251920 0.55000
NM_177987.3(TUBB8):c.58-18T>C rs11251919 0.54993
NM_177987.3(TUBB8):c.57+48C>T rs6560828 0.45040
NM_177987.3(TUBB8):c.277+129G>A rs10904045 0.42126
NM_177987.3(TUBB8):c.57+26T>C rs11251929 0.35698
NM_001387263.1(PATL2):c.478C>T (p.Arg160Ter) rs548527219 0.00003
NM_177987.3(TUBB8):c.10A>C (p.Ile4Leu) rs199817418 0.00001
NM_177987.3(TUBB8):c.292G>A (p.Gly98Arg) rs1339474843 0.00001
NM_177987.3(TUBB8):c.922G>A (p.Gly308Ser) rs782575307 0.00001
NM_177987.3(TUBB8):c.-48T>A rs6560829
NM_177987.3(TUBB8):c.1036C>A (p.Pro346Thr)
NM_177987.3(TUBB8):c.1045G>A (p.Val349Ile) rs572455524
NM_177987.3(TUBB8):c.1060T>C (p.Cys354Arg)
NM_177987.3(TUBB8):c.1073C>T (p.Pro358Leu) rs1588269791
NM_177987.3(TUBB8):c.1088T>C (p.Met363Thr) rs869025611
NM_177987.3(TUBB8):c.1103T>C (p.Ile368Thr)
NM_177987.3(TUBB8):c.1130T>C (p.Leu377Pro) rs1834351540
NM_177987.3(TUBB8):c.1139G>A (p.Arg380His) rs1554738022
NM_177987.3(TUBB8):c.1163T>C (p.Met388Thr) rs1834350042
NM_177987.3(TUBB8):c.1172G>A (p.Arg391His) rs1834349844
NM_177987.3(TUBB8):c.1178C>A (p.Ala393Asp) rs1834349710
NM_177987.3(TUBB8):c.1189T>G (p.Trp397Gly) rs1834349280
NM_177987.3(TUBB8):c.1203_1204insCT (p.Gly402fs) rs1834348631
NM_177987.3(TUBB8):c.1242C>G (p.Asn414Lys) rs1834347552
NM_177987.3(TUBB8):c.1249G>A (p.Asp417Asn) rs869025272
NM_177987.3(TUBB8):c.1271A>G (p.Gln424Arg) rs1834346707
NM_177987.3(TUBB8):c.136C>T (p.Arg46Cys) rs1834414619
NM_177987.3(TUBB8):c.166G>A (p.Gly56Ser)
NM_177987.3(TUBB8):c.209C>T (p.Pro70Leu)
NM_177987.3(TUBB8):c.277+2T>C
NM_177987.3(TUBB8):c.322G>A (p.Glu108Lys)
NM_177987.3(TUBB8):c.367G>A (p.Glu123Lys) rs562343372
NM_177987.3(TUBB8):c.394G>T (p.Gly132Cys) rs782492611
NM_177987.3(TUBB8):c.422G>C (p.Gly141Ala) rs1834382153
NM_177987.3(TUBB8):c.426dup (p.Thr143fs) rs782246853
NM_177987.3(TUBB8):c.516G>A (p.Ser172=) rs9329305
NM_177987.3(TUBB8):c.527C>T (p.Ser176Leu) rs869025609
NM_177987.3(TUBB8):c.535G>A (p.Val179Met) rs782262099
NM_177987.3(TUBB8):c.539T>C (p.Val180Ala) rs1834375618
NM_177987.3(TUBB8):c.544C>T (p.Pro182Ser) rs1834375493
NM_177987.3(TUBB8):c.550A>G (p.Asn184Asp) rs782588770
NM_177987.3(TUBB8):c.594G>C (p.Glu198Asp) rs1834373127
NM_177987.3(TUBB8):c.5G>A (p.Arg2Lys) rs869025273
NM_177987.3(TUBB8):c.613G>A (p.Glu205Lys) rs1554738360
NM_177987.3(TUBB8):c.629T>A (p.Ile210Lys) rs1834371028
NM_177987.3(TUBB8):c.686T>C (p.Val229Ala) rs869025271
NM_177987.3(TUBB8):c.713C>T (p.Thr238Met) rs1057520306
NM_177987.3(TUBB8):c.722G>A (p.Arg241His) rs782631950
NM_177987.3(TUBB8):c.728C>T (p.Pro243Leu) rs1834366416
NM_177987.3(TUBB8):c.735G>C (p.Gln245His) rs1588270347
NM_177987.3(TUBB8):c.763G>A (p.Val255Met) rs782269374
NM_177987.3(TUBB8):c.785G>A (p.Arg262Gln) rs869025610
NM_177987.3(TUBB8):c.80_100del (p.Glu27_Ala33del) rs1057520307
NM_177987.3(TUBB8):c.844C>T (p.Arg282Trp)
NM_177987.3(TUBB8):c.845G>C (p.Arg282Pro) rs576662836
NM_177987.3(TUBB8):c.893A>G (p.Asn298Ser) rs1834359656
NM_177987.3(TUBB8):c.900G>A (p.Met300Ile) rs869025612
NM_177987.3(TUBB8):c.938C>T (p.Ala313Val) rs199826048
NM_177987.3(TUBB8):c.940G>T (p.Ala314Ser) rs781859520
NM_177987.3(TUBB8):c.959G>A (p.Arg320His)

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