ClinVar Miner

List of variants reported as uncertain significance for Premature ovarian failure

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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_178822.5(IGSF10):c.2237C>G (p.Pro746Arg) rs35667704 0.00655
NM_003235.5(TG):c.2610G>T (p.Gln870His) rs2229843 0.00229
NM_178822.5(IGSF10):c.5477G>A (p.Gly1826Asp) rs147801336 0.00017
NM_178822.5(IGSF10):c.346A>G (p.Lys116Glu) rs370577610 0.00006
NM_207421.4(PADI6):c.519G>C (p.Glu173Asp) rs375717303 0.00006
NM_001098537.3(PNPLA7):c.3683T>C (p.Ile1228Thr) rs368502649 0.00003
NM_000064.4(C3):c.1835C>T (p.Thr612Met) rs201572752 0.00002
NM_007038.5(ADAMTS5):c.2176G>A (p.Gly726Arg) rs1986874557 0.00001
NM_015340.4(LARS2):c.326A>G (p.Asp109Gly) rs1698123763 0.00001
GRCh37/hg19 12q23.3(chr12:104908843-105074764)x3
GRCh37/hg19 12q24.31(chr12:125260645-125321461)x3
GRCh37/hg19 15q25.2(chr15:82429837-82691453)x3
GRCh37/hg19 16p11.2(chr16:29779861-29980031)x3
GRCh37/hg19 16p13.12(chr16:13889247-14163635)x3
GRCh37/hg19 17p12(chr17:14105874-15383769)x1
GRCh37/hg19 17q12(chr17:34815551-36220373)x3
GRCh37/hg19 18p11.22(chr18:9450518-9547947)x3
GRCh37/hg19 1p32.1(chr1:59891821-61162222)x3
GRCh37/hg19 1p34.3(chr1:35570364-35656664)x3
GRCh37/hg19 1q25.1(chr1:173697478-174010664)x3
GRCh37/hg19 1q43(chr1:237083719-237586469)x3
GRCh37/hg19 21q21.3(chr21:27502468-27849346)x3
GRCh37/hg19 22q12.3-13.1(chr22:37485062-37618530)x3
GRCh37/hg19 2q11.1(chr2:95444917-95977790)x3
GRCh37/hg19 2q21.2(chr2:133584471-133902333)x3
GRCh37/hg19 2q33.1(chr2:200250898-201845999)x3
GRCh37/hg19 2q35(chr2:216629374-217251859)x3
GRCh37/hg19 3p26.3(chr3:66894-2552565)x3
GRCh37/hg19 3q21.1(chr3:122964492-123080578)x3
GRCh37/hg19 3q27.1(chr3:182896411-183198268)x3
GRCh37/hg19 4p16.1(chr4:10188326-11112475)x3
GRCh37/hg19 4q12(chr4:57759221-57795328)x3
GRCh37/hg19 4q21.21(chr4:80179372-80566060)x3
GRCh37/hg19 5p13.2(chr5:34003361-34663915)x3
GRCh37/hg19 5p15.31-15.2(chr5:9529809-9990381)x3
GRCh37/hg19 6q27(chr6:170713690-170890384)x3
GRCh37/hg19 7p14.1(chr7:37741319-37885121)x3
GRCh37/hg19 7p15.3(chr7:21483605-21589243)x3
GRCh37/hg19 7q34(chr7:140070378-140129626)x3
GRCh37/hg19 8q22.3(chr8:104996667-105229526)x3
GRCh37/hg19 Xp22.31(chrX:6516735-8135053)x3
GRCh37/hg19 Xq12(chrX:66905875-67475065)x3
GRCh38/hg38 15q21.3(chr15:57374829-57442092)x1
GRCh38/hg38 17p13.3(chr17:162094-264878)x1
GRCh38/hg38 19p13.3(chr19:3804703-3835179)x1
GRCh38/hg38 19q13.33(chr19:47559877-47778812)x1
GRCh38/hg38 1p31.3(chr1:61747150-61956770)x1
GRCh38/hg38 1p33(chr1:48634520-49615901)x1
GRCh38/hg38 1q43(chr1:240208521-240398427)x1
GRCh38/hg38 22q13.2(chr22:42726714-43104206)x1
GRCh38/hg38 4q34.2(chr4:176084892-176188175)x1
GRCh38/hg38 6q13(chr6:72988135-73225292)x1
GRCh38/hg38 7p14.3(chr7:33600258-33690764)x1
GRCh38/hg38 7p22.3(chr7:2263321-2337697)x1
GRCh38/hg38 8q23.3(chr8:112606184-112706952)x1
GRCh38/hg38 9q22.31(chr9:92301666-92417555)x1
GRCh38/hg38 9q31.3(chr9:111574733-111624855)x1
GRCh38/hg38 9q33.1(chr9:116522866-117041655)x1
GRCh38/hg38 Xp22.33(chrX:2673846-2884527)x1
NM_000136.3(FANCC):c.1027T>G (p.Tyr343Asp) rs990172603
NM_000946.3(PRIM1):c.873G>T (p.Trp291Cys) rs1953872046
NM_001004311.3(FIGLA):c.*5_*7delinsAGG rs386647171
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_002742.3(PRKD1):c.646C>G (p.Arg216Gly) rs145651161
NM_003399.6(XPNPEP2):c.1081G>A (p.Glu361Lys) rs1926453223
NM_005260.7(GDF9):c.-616_-142dup rs1581252159
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_020191.4(MRPS22):c.404G>A (p.Arg135Gln) rs774237195
NM_020311.3(ACKR3):c.1003T>G (p.Ser335Ala) rs1691535270
NM_178822.5(IGSF10):c.7849del (p.Ala2617fs) rs1577654964
Single allele

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