ClinVar Miner

List of variants reported as uncertain significance for amenorrhea by Yale Center for Mendelian Genomics, Yale University

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001127496.3(SPRY4):c.653C>A (p.Ser218Tyr) rs139512218 0.00510
NM_021913.5(AXL):c.1549G>A (p.Gly517Ser) rs35538872 0.00419
NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys) rs150478342 0.00415
NM_005215.4(DCC):c.1409G>A (p.Gly470Asp) rs141813053 0.00296
NM_000216.4(ANOS1):c.1759G>T (p.Val587Leu) rs137900287 0.00268
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_006080.3(SEMA3A):c.458A>G (p.Asn153Ser) rs139295139 0.00254
NM_006261.5(PROP1):c.425C>T (p.Ala142Val) rs143790367 0.00193
NM_001366057.1(OTUD4):c.2993C>G (p.Pro998Arg) rs4561948 0.00163
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) rs104893837 0.00132
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_003865.3(HESX1):c.385G>A (p.Val129Ile) rs143057250 0.00064
NM_000216.4(ANOS1):c.2015A>G (p.His672Arg) rs199771303 0.00037
NM_005215.4(DCC):c.2455G>A (p.Asp819Asn) rs181197485 0.00033
NM_012414.4(RAB3GAP2):c.1258C>T (p.Arg420Cys) rs188522997 0.00033
NM_012414.4(RAB3GAP2):c.1580C>T (p.Pro527Leu) rs149563712 0.00019
NM_012414.4(RAB3GAP2):c.3616G>T (p.Asp1206Tyr) rs139407102 0.00016
NC_000003.12:g.181712424G>A rs727504169 0.00014
NM_001378457.1(DMXL2):c.1427C>G (p.Thr476Ser) rs757537450 0.00013
NM_001024613.4(FEZF1):c.1343A>C (p.Gln448Pro) rs561681709 0.00009
NM_012431.3(SEMA3E):c.511C>T (p.Pro171Ser) rs145249878 0.00009
NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys) rs753953205 0.00009
NM_017780.4(CHD7):c.2182G>C (p.Asp728His) rs756365280 0.00009
NM_004795.4(KL):c.2251A>G (p.Arg751Gly) rs373177691 0.00007
NM_001378457.1(DMXL2):c.1687A>G (p.Met563Val) rs772129232 0.00006
NM_018082.6(POLR3B):c.2932C>T (p.Arg978Cys) rs747972980 0.00006
NM_001166114.2(PNPLA6):c.3955G>A (p.Gly1319Arg) rs140568070 0.00004
NM_001059.3(TACR3):c.743A>G (p.His248Arg) rs1374236686 0.00003
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp) rs200441929 0.00003
NM_001083111.2(GNRH1):c.143T>G (p.Ile48Arg) rs201184458 0.00002
NM_001127496.3(SPRY4):c.206G>T (p.Gly69Val) rs751651003 0.00002
NM_198391.3(FLRT3):c.1202A>T (p.Gln401Leu) rs367908011 0.00002
NM_000216.4(ANOS1):c.1111G>A (p.Val371Ile) rs1490275516 0.00001
NM_004795.4(KL):c.2534T>G (p.Val845Gly) rs1167677876 0.00001
NM_005215.4(DCC):c.2647G>A (p.Val883Ile) rs187939463 0.00001
NM_012233.3(RAB3GAP1):c.2840G>A (p.Arg947His) rs756956146 0.00001
NM_018082.6(POLR3B):c.2161A>T (p.Lys721Ter) rs374359855 0.00001
NM_018117.12(WDR11):c.16G>A (p.Val6Met) rs780739420 0.00001
NM_175737.4(KLB):c.2723G>T (p.Gly908Val) rs1487572959 0.00001
NM_175737.4(KLB):c.505G>A (p.Ala169Thr) rs560220050 0.00001
NM_000406.3(GNRHR):c.504T>A (p.Ser168Arg) rs104893840
NM_001035235.4(SRA1):c.293_294del (p.Val98fs) rs1491190229
NM_001126128.2(PROK2):c.181A>G (p.Met61Val) rs1282942039
NM_017780.4(CHD7):c.5114C>A (p.Pro1705Gln) rs373986410
NM_017780.4(CHD7):c.732C>G (p.Ser244Arg) rs779776551
NM_021913.5(AXL):c.874del (p.His292fs) rs778012871
NM_023110.3(FGFR1):c.779G>A (p.Gly260Glu) rs2150824695
NM_144773.4(PROKR2):c.1019C>G (p.Thr340Ser) rs2122203627
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_144773.4(PROKR2):c.332T>G (p.Met111Arg) rs914930539
NM_178138.6(LHX3):c.934G>A (p.Gly312Ser) rs866451680

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