ClinVar Miner

List of variants reported as likely pathogenic by Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University

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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_144688.5(KASH5):c.747G>A (p.Ala249=) rs200723797 0.00103
NM_001204.7(BMPR2):c.1042G>A (p.Val348Ile) rs201067849 0.00020
NM_023067.4(FOXL2):c.1045C>G (p.Arg349Gly) rs201840174 0.00013
NM_001004311.3(FIGLA):c.11C>A (p.Ala4Glu) rs71647803 0.00012
NM_002440.4(MSH4):c.1063A>G (p.Ile355Val) rs116141807 0.00010
NM_005260.7(GDF9):c.1283G>C (p.Ser428Thr) rs118080183 0.00009
NM_001204.7(BMPR2):c.2618G>A (p.Arg873Gln) rs201781338 0.00007
NM_020547.3(AMHR2):c.55C>G (p.Pro19Ala) rs756301317 0.00006
NM_006667.5(PGRMC1):c.272T>C (p.Met91Thr) rs776947628 0.00003
NM_006667.5(PGRMC1):c.533C>T (p.Thr178Ile) rs201254642 0.00003
NM_032940.3(POLR2C):c.77C>G (p.Thr26Ser) rs770336099 0.00003
NM_005448.2(BMP15):c.919C>T (p.His307Tyr) rs782540417 0.00002
NM_000124.4(ERCC6):c.814G>A (p.Glu272Lys) rs768589918 0.00001
NM_000145.4(FSHR):c.683C>T (p.Thr228Ile) rs776897994 0.00001
NM_001080413.3(NOBOX):c.1199C>T (p.Pro400Leu) rs568492478 0.00001
NM_001204.7(BMPR2):c.1481C>T (p.Ala494Val) rs2229778 0.00001
NM_001204.7(BMPR2):c.1585C>T (p.Arg529Cys) rs140049204 0.00001
NM_002440.4(MSH4):c.2374A>G (p.Thr792Ala) rs557796016 0.00001
NM_004959.5(NR5A1):c.250C>T (p.Arg84Cys) rs1832458239 0.00001
NM_005260.7(GDF9):c.946C>T (p.Arg316Cys) rs751894227 0.00001
NM_005448.2(BMP15):c.208A>C (p.Met70Leu) rs782325962 0.00001
NM_007031.2(HSF2BP):c.382T>C (p.Cys128Arg) rs781780538 0.00001
NM_032940.3(POLR2C):c.544G>T (p.Val182Leu) rs901733146 0.00001
NM_148674.5(SMC1B):c.863A>G (p.Glu288Gly) rs781614640 0.00001
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_000145.4(FSHR):c.1396G>A (p.Glu466Lys) rs2103991776
NM_000145.4(FSHR):c.1763T>C (p.Ile588Thr) rs2103990288
NM_000145.4(FSHR):c.374T>G (p.Leu125Arg) rs1411985137
NM_000145.4(FSHR):c.884C>T (p.Ser295Phe) rs2103994032
NM_000479.5(AMH):c.1393C>T (p.Arg465Cys) rs2145032534
NM_001004311.3(FIGLA):c.319C>T (p.Leu107Phe) rs1553390248
NM_001004311.3(FIGLA):c.326G>A (p.Gly109Asp) rs1193354892
NM_001017975.6(HFM1):c.1880T>C (p.Val627Ala) rs1209622397
NM_001080413.3(NOBOX):c.1298G>T (p.Gly433Val) rs1476085935
NM_001101677.2(SOHLH1):c.244C>G (p.Gln82Glu) rs2131296288
NM_002440.4(MSH4):c.1025C>T (p.Thr342Ile) rs777079867
NM_002440.4(MSH4):c.1855A>G (p.Met619Val) rs1430228393
NM_004959.5(NR5A1):c.565C>A (p.Pro189Thr) rs1483691434
NM_004959.5(NR5A1):c.909C>A (p.Ser303Arg) rs185071408
NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys) rs1057517779
NM_006667.5(PGRMC1):c.418G>C (p.Asp140His) rs1334781963
NM_007031.2(HSF2BP):c.557T>C (p.Leu186Pro) rs1319345920
NM_018062.4(FANCL):c.1048_1051del (p.Gln350fs) rs1553433429
NM_018062.4(FANCL):c.739dup (p.Met247fs) rs1573518300
NM_020547.3(AMHR2):c.355A>G (p.Asn119Asp) rs2136943263
NM_020547.3(AMHR2):c.515G>A (p.Arg172Gln) rs1182853719
NM_023067.4(FOXL2):c.553G>C (p.Gly185Arg) rs1373284153
NM_023067.4(FOXL2):c.789C>A (p.Ser263Arg) rs2107743526
NM_172166.4(MSH5):c.826C>T (p.Arg276Cys) rs144471639
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.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.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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