ClinVar Miner

List of variants reported as pathogenic for uterine disorder by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (62):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp) rs587779227 0.00001
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter) rs63749999 0.00001
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617 0.00001
NM_000535.7(PMS2):c.538-1G>C rs988423880 0.00001
NM_000179.3(MSH6):c.1139_1143del (p.Asp380fs) rs587779206
NM_000179.3(MSH6):c.1238G>A (p.Trp413Ter) rs786201049
NM_000179.3(MSH6):c.1767del (p.Pro591fs) rs1114167765
NM_000179.3(MSH6):c.1806_1809del (p.Glu604fs) rs63750735
NM_000179.3(MSH6):c.2028_2029del (p.Lys676_Ser677insTer) rs1064794055
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter) rs267608068
NM_000179.3(MSH6):c.2147_2148del (p.Thr716fs) rs786204048
NM_000179.3(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.3(MSH6):c.2348_2349del (p.Leu782_Cys783insTer) rs267608065
NM_000179.3(MSH6):c.3416dup (p.Lys1140fs) rs587781544
NM_000179.3(MSH6):c.3633dup (p.Val1212fs) rs587776706
NM_000179.3(MSH6):c.3647-2_3991del rs2104536268
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.3(MSH6):c.3847_3850dup (p.Thr1284fs) rs267608128
NM_000179.3(MSH6):c.3934_3937dup (p.Ile1313fs) rs760190301
NM_000179.3(MSH6):c.3938_3941dup (p.Gln1314fs) rs267608126
NM_000179.3(MSH6):c.3980_3981delinsTCAG (p.Asn1327fs) rs2104566954
NM_000179.3(MSH6):c.755C>G (p.Ser252Ter) rs267608048
NM_000249.4(MLH1):c.131_132delinsTT (p.Ser44Phe) rs2125710774
NM_000249.4(MLH1):c.1559-4_1667+63del rs2125943327
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.588+1G>C rs267607772
NM_000251.3(MSH2):c.1163dup (p.Asn388fs) rs2104439295
NM_000251.3(MSH2):c.1566C>G (p.Tyr522Ter) rs63750224
NM_000251.3(MSH2):c.1661+5G>C rs267607972
NM_000251.3(MSH2):c.367-2_645+742del
NM_000251.3(MSH2):c.459del (p.Ala154fs) rs2104023773
NM_000251.3(MSH2):c.811_814del (p.Ser271fs) rs587779185
NM_000314.8(PTEN):c.209+4_209+7del rs398123318
NM_000535.7(PMS2):c.1A>T (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.2175-1335_2445+4del
NM_000535.7(PMS2):c.2184del (p.Leu729fs) rs1554294505
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2445+1763_*2del
NM_000535.7(PMS2):c.2446-170_*3del rs2128656455
NM_000535.7(PMS2):c.538-41_538-40insATTCCTATAATA rs2128802890
NM_000535.7(PMS2):c.804-267_903+2del rs2128774241
NM_000535.7(PMS2):c.904-199_988+2del rs2128754923
NM_000535.7(PMS2):c.989-1_1144+2del rs2128746824
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664

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