ClinVar Miner

List of variants reported as uncertain significance for female infertility by Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_007038.5(ADAMTS5):c.2176G>A (p.Gly726Arg) rs1986874557 0.00001
NM_015340.4(LARS2):c.326A>G (p.Asp109Gly) rs1698123763 0.00001
NM_000136.3(FANCC):c.1027T>G (p.Tyr343Asp) rs990172603
NM_000946.3(PRIM1):c.873G>T (p.Trp291Cys) rs1953872046
NM_001036.6(RYR3):c.2567C>G (p.Thr856Ser) rs1189945732
NM_001036.6(RYR3):c.6604G>A (p.Ala2202Thr) rs2066768594
NM_001048205.2(REC8):c.1057A>C (p.Thr353Pro) rs370763234
NM_001080435.3(WHAMM):c.734C>T (p.Pro245Leu) rs2050659596
NM_001184785.2(PARD3):c.3181C>G (p.Gln1061Glu) rs910077515
NM_001297719.2(BMAL1):c.18G>C (p.Met6Ile) rs1942174898
NM_001321324.2(MOV10):c.2831A>G (p.Tyr944Cys) rs1674524213
NM_001349232.2(ATG7):c.1261C>T (p.Leu421Phe) rs1954829367
NM_002037.5(FYN):c.206C>G (p.Ser69Cys) rs1800846906
NM_002303.6(LEPR):c.709C>T (p.Pro237Ser) rs1656071790
NM_002467.6(MYC):c.478G>A (p.Val160Ile) rs1813651626
NM_003399.6(XPNPEP2):c.1081G>A (p.Glu361Lys) rs1926453223
NM_005269.3(GLI1):c.2227T>C (p.Tyr743His) rs1871871826
NM_007371.4(BRD3):c.1149G>A (p.Met383Ile) rs1830145204
NM_015104.3(ATG2A):c.1954C>A (p.Leu652Met) rs1944696380
NM_020311.3(ACKR3):c.1003T>G (p.Ser335Ala) rs1691535270

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