ClinVar Miner

List of variants studied for reproductive system disorder by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (663):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00234
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250 0.00015
NM_019066.5(MAGEL2):c.2660G>A (p.Arg887Gln) rs199772480 0.00014
NM_001126128.2(PROK2):c.217C>T (p.Arg73Cys) rs121434272 0.00005
NM_000044.6(AR):c.1513C>A (p.Pro505Thr) rs764238988 0.00002
NM_012431.3(SEMA3E):c.2143C>A (p.Gln715Lys) rs538244011 0.00002
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) rs587777167 0.00001
NC_000002.12:g.31532094_31545036delinsCA
NM_000044.6(AR):c.1370GCG[20] (p.Gly471_Gly473dup) rs746853821
NM_000044.6(AR):c.1370GCG[5] (p.Gly462_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[7] (p.Gly464_Gly473del) rs746853821
NM_000044.6(AR):c.2342T>A (p.Met781Lys) rs2076137339
NM_000051.4(ATM):c.2921+1G>T rs587781558
NM_000051.4(ATM):c.467G>A (p.Trp156Ter) rs876658159
NM_000155.4(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000475.5(NR0B1):c.1267del (p.His423fs) rs1569268048
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del) rs782391479
NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met) rs104894061
NM_002487.3(NDN):c.533G>A (p.Arg178Lys) rs1555376130
NM_017780.4(CHD7):c.3710A>T (p.Asn1237Ile) rs775459114
NM_017780.4(CHD7):c.8278AATCTCCAG[1] (p.2760NLQ[1]) rs747665912
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs) rs672601359
NM_030761.5(WNT4):c.944T>G (p.Phe315Cys) rs1334778982
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_207111.4(RNF216):c.202-1G>C rs1562451985

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