ClinVar Miner

List of variants reported as likely benign for uterine disorder

Included ClinVar conditions (62):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_001127255.2(NLRP7):c.1725G>T (p.Leu575=) rs73055288 0.03784
NM_001127255.2(NLRP7):c.2706C>T (p.Ala902=) rs61746780 0.02585
NM_206828.4(NLRP7):c.*180G>C rs775865 0.02454
NM_001127255.2(NLRP7):c.3082A>G (p.Thr1028Ala) rs7256020 0.02291
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) rs2305179 0.01752
NM_001127255.2(NLRP7):c.2325G>A (p.Pro775=) rs61744426 0.01696
NM_001127255.2(NLRP7):c.603C>T (p.Ser201=) rs7256285 0.01430
NM_001127255.2(NLRP7):c.929A>G (p.Gln310Arg) rs77812009 0.01325
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys) rs34058399 0.00789
NM_001127255.2(NLRP7):c.467G>A (p.Arg156Gln) rs61746625 0.00759
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_001127255.2(NLRP7):c.2721C>T (p.Asn907=) rs61750468 0.00215
NM_002691.4(POLD1):c.56G>A (p.Arg19His) rs3218773 0.00197
NM_000142.5(FGFR3):c.1959+15G>C rs17886888 0.00158
NM_000179.3(MSH6):c.3647-6T>A rs182871847 0.00134
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_001040108.2(MLH3):c.4011+15T>G rs139032600 0.00031
NM_004360.5(CDH1):c.303C>T (p.Tyr101=) rs150789339 0.00027
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys) rs200310662 0.00021
NM_000059.4(BRCA2):c.6921A>G (p.Ser2307=) rs181183366 0.00019
NM_000546.6(TP53):c.74+14T>C rs184743157 0.00018
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser) rs550707862 0.00017
NM_024675.4(PALB2):c.2586+10A>G rs373321719 0.00014
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279 0.00013
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592 0.00012
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872 0.00011
NM_000179.3(MSH6):c.3172+20T>C rs3136335 0.00009
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp) rs1800938 0.00009
NM_001040108.2(MLH3):c.873T>G (p.Asn291Lys) rs767413852 0.00009
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673 0.00009
NM_000455.5(STK11):c.598-7G>A rs377502057 0.00008
NM_024675.4(PALB2):c.2474G>C (p.Arg825Thr) rs146218439 0.00008
NM_002691.4(POLD1):c.2988G>A (p.Thr996=) rs542996664 0.00007
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774 0.00006
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462 0.00006
NM_001127255.2(NLRP7):c.531C>T (p.His177=) rs746150420 0.00006
NM_004360.5(CDH1):c.48+15_48+16del rs730881655 0.00006
NM_000142.5(FGFR3):c.1827C>G (p.Ala609=) rs750472969 0.00005
NM_000249.4(MLH1):c.438A>G (p.Gln146=) rs377279035 0.00005
NM_000051.4(ATM):c.8391T>C (p.Ser2797=) rs566485657 0.00004
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly) rs63751450 0.00004
NM_000179.3(MSH6):c.3557-17A>T rs542542093 0.00004
NM_000179.3(MSH6):c.4001+10dup rs730882138 0.00004
NM_004360.5(CDH1):c.84C>T (p.Cys28=) rs587780789 0.00004
NM_000251.3(MSH2):c.817G>A (p.Val273Ile) rs530814648 0.00003
NM_004360.5(CDH1):c.1225T>C (p.Trp409Arg) rs587778176 0.00003
NM_000142.5(FGFR3):c.1935C>T (p.Leu645=) rs104886006 0.00002
NM_000179.3(MSH6):c.3801+14G>T rs755626529 0.00002
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn) rs587781818 0.00002
NM_000179.3(MSH6):c.958C>A (p.Pro320Thr) rs754879198 0.00001
NM_000251.3(MSH2):c.159C>T (p.Ala53=) rs780178752 0.00001
NM_000535.7(PMS2):c.1360C>T (p.Leu454=) rs1338448094 0.00001
NM_000535.7(PMS2):c.496C>T (p.Leu166=) rs876659249 0.00001
NM_004360.5(CDH1):c.2358C>T (p.Asp786=) rs760701558 0.00001
NC_000019.10:g.54947788G>A rs9941465
NM_000179.3(MSH6):c.3228C>T (p.Arg1076=) rs786203698
NM_000179.3(MSH6):c.3557-4dup rs267608102
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
NM_000251.3(MSH2):c.741C>A (p.Gly247=) rs747321505
NM_000251.3(MSH2):c.92C>G (p.Thr31Ser) rs746635262
NM_000535.7(PMS2):c.1188G>A (p.Met396Ile) rs1170825702
NM_000535.7(PMS2):c.23+16A>G rs1554308921
NM_000535.7(PMS2):c.299A>G (p.Gln100Arg) rs747771951
NM_000535.7(PMS2):c.7C>A (p.Arg3=) rs763939668
NM_001040108.2(MLH3):c.149T>A (p.Phe50Tyr) rs148409389
NM_001127255.2(NLRP7):c.1104T>C (p.Ile368=) rs1654636
NM_001127255.2(NLRP7):c.2982-28del rs34438464
NM_001127255.2(NLRP7):c.931C>A (p.Leu311Ile) rs79513034
NM_002439.5(MSH3):c.1454-5del rs780632399
NM_002439.5(MSH3):c.166_167insGGGCCGCAG (p.Ala55_Ala56insGlyAlaAla)
NM_024675.4(PALB2):c.1881G>T (p.Val627=) rs139362268
NM_152513.4(MEI1):c.868CTC[1] (p.Leu291del)

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