ClinVar Miner

List of variants reported as uncertain significance for 46 XX gonadal dysgenesis

Included ClinVar conditions (16):
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ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_005448.2(BMP15):c.538G>A (p.Ala180Thr) rs104894767 0.01035
NM_000145.4(FSHR):c.485G>A (p.Arg162Lys) rs111883853 0.00372
NM_000145.4(FSHR):c.*574T>C rs7596252 0.00222
NM_000145.4(FSHR):c.399G>A (p.Lys133=) rs148815172 0.00144
NM_000145.4(FSHR):c.786C>T (p.Val262=) rs150863050 0.00136
NM_000145.4(FSHR):c.1572C>G (p.Ser524Arg) rs6167 0.00109
NM_000145.4(FSHR):c.1022T>C (p.Val341Ala) rs139226976 0.00061
NM_000145.4(FSHR):c.24G>T (p.Leu8Phe) rs115030945 0.00034
NM_000145.4(FSHR):c.1330G>A (p.Ala444Thr) rs202162496 0.00032
NM_005448.2(BMP15):c.226C>T (p.Arg76Cys) rs104894766 0.00025
NM_005448.2(BMP15):c.811G>T (p.Gly271Cys) rs782269507 0.00025
NM_000145.4(FSHR):c.446+10T>C rs200504733 0.00016
NM_000145.4(FSHR):c.1677C>T (p.Pro559=) rs201903308 0.00012
NM_000145.4(FSHR):c.956A>G (p.Glu319Gly) rs147685926 0.00010
NM_000145.4(FSHR):c.1596G>A (p.Met532Ile) rs757909841 0.00008
NM_000145.4(FSHR):c.*321A>T rs117897604 0.00006
NM_000145.4(FSHR):c.685A>G (p.Arg229Gly) rs201122960 0.00006
NM_000145.4(FSHR):c.1664C>T (p.Thr555Ile) rs200144377 0.00004
NM_000145.4(FSHR):c.1173A>G (p.Gln391=) rs200532372 0.00003
NM_000145.4(FSHR):c.645C>T (p.His215=) rs777329711 0.00003
NM_000145.4(FSHR):c.707A>G (p.Tyr236Cys) rs748152489 0.00003
NM_000145.4(FSHR):c.898G>A (p.Glu300Lys) rs780241333 0.00003
NM_000145.4(FSHR):c.1145T>C (p.Ile382Thr) rs377596075 0.00002
NM_000145.4(FSHR):c.135G>A (p.Pro45=) rs756635503 0.00002
NM_000145.4(FSHR):c.479T>C (p.Ile160Thr) rs121909659 0.00002
NM_000145.4(FSHR):c.-58T>C rs886056153 0.00001
NM_000145.4(FSHR):c.1400G>T (p.Arg467Ile) rs751002380 0.00001
NM_000145.4(FSHR):c.1576T>C (p.Leu526=) rs138281715 0.00001
NM_000145.4(FSHR):c.176G>A (p.Arg59Gln) rs867447724 0.00001
NM_000145.4(FSHR):c.1902C>T (p.Arg634=) rs780079274 0.00001
NM_000145.4(FSHR):c.219G>A (p.Glu73=) rs377397067 0.00001
NM_000145.4(FSHR):c.455A>C (p.Gln152Pro) rs377031489 0.00001
NM_000145.4(FSHR):c.636T>C (p.Asp212=) rs1239486057 0.00001
NM_000145.4(FSHR):c.688A>G (p.Ile230Val) rs367711694 0.00001
NM_000145.4(FSHR):c.947A>G (p.Glu316Gly) rs886056150 0.00001
NM_016556.4(PSMC3IP):c.-35C>T rs369453385 0.00001
NM_030761.5(WNT4):c.739C>T (p.Arg247Cys) rs140080433 0.00001
NM_000145.4(FSHR):c.*173G>A rs1674271811
NM_000145.4(FSHR):c.-96A>C rs991234329
NM_000145.4(FSHR):c.1094T>C (p.Leu365Pro) rs1674342844
NM_000145.4(FSHR):c.180C>T (p.Val60=) rs1027520338
NM_000145.4(FSHR):c.1831C>G (p.Leu611Val) rs886056149
NM_000145.4(FSHR):c.225-11T>C rs886056152
NM_000145.4(FSHR):c.351G>A (p.Gln117=) rs1472229763
NM_000145.4(FSHR):c.43G>T (p.Gly15Cys)
NM_000145.4(FSHR):c.496G>T (p.Val166Leu) rs142383710
NM_000145.4(FSHR):c.510T>G (p.Phe170Leu) rs771361079
NM_000145.4(FSHR):c.926G>T (p.Gly309Val) rs61743754
NM_001080394.4(SPIDR):c.2653del (p.Cys885fs)
NM_005448.2(BMP15):c.596del (p.Gly199fs) rs782784547
NM_005448.2(BMP15):c.611G>A (p.Arg204Gln)
NM_005448.2(BMP15):c.731G>A (p.Arg244Gln)
NM_005448.2(BMP15):c.920A>G (p.His307Arg) rs1923134918
NM_020191.4(MRPS22):c.16A>G (p.Thr6Ala) rs761146333
NM_030761.5(WNT4):c.944T>G (p.Phe315Cys) rs1334778982

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