ClinVar Miner

List of variants reported as likely pathogenic for oocyte maturation defect 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
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.1045G>A (p.Val349Ile) rs572455524
NM_177987.3(TUBB8):c.1073C>T (p.Pro358Leu) rs1588269791
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.1242C>G (p.Asn414Lys) rs1834347552
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.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.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.613G>A (p.Glu205Lys) rs1554738360
NM_177987.3(TUBB8):c.629T>A (p.Ile210Lys) rs1834371028
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.893A>G (p.Asn298Ser) rs1834359656
NM_177987.3(TUBB8):c.938C>T (p.Ala313Val) rs199826048
NM_177987.3(TUBB8):c.940G>T (p.Ala314Ser) rs781859520

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