ClinVar Miner

List of variants in gene DHFR, MSH3 studied for endometrial disorder

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_000791.4(DHFR):c.-473T>C rs1650697 0.80068
NM_000791.4(DHFR):c.-400A>G rs2405875 0.02618
NM_000791.4(DHFR):c.-259C>T rs6151597 0.00699
NM_000791.4(DHFR):c.-443G>A rs577919981 0.00127
NM_002439.5(MSH3):c.16C>T (p.Pro6Ser) rs374904719 0.00016
NM_002439.5(MSH3):c.193G>C (p.Ala65Pro) rs774328125 0.00005
NM_000791.4(DHFR):c.-381T>G rs773388641 0.00004
NM_002439.5(MSH3):c.145C>T (p.Pro49Ser) rs775307118 0.00003
NM_002439.5(MSH3):c.161C>T (p.Ala54Val) rs767048342 0.00003
NM_002439.5(MSH3):c.202G>A (p.Ala68Thr) rs1223470400 0.00002
NM_002439.5(MSH3):c.128C>T (p.Ala43Val) rs928378977 0.00001
NM_002439.5(MSH3):c.136C>T (p.Gln46Ter) rs779180469 0.00001
NM_002439.5(MSH3):c.167C>T (p.Ala56Val) rs1289418176 0.00001
NM_002439.5(MSH3):c.197C>T (p.Pro66Leu) rs1749217090 0.00001
NM_002439.5(MSH3):c.209C>T (p.Ala70Val) rs1182862032 0.00001
NM_002439.5(MSH3):c.227C>T (p.Pro76Leu) rs1322965420 0.00001
NM_002439.5(MSH3):c.22T>C (p.Ser8Pro) rs1313510221 0.00001
NM_002439.5(MSH3):c.237+2T>C rs1480047980 0.00001
NM_002439.5(MSH3):c.237+3A>G rs745911924 0.00001
NM_002439.5(MSH3):c.237+4G>A rs1466149546 0.00001
NM_002439.5(MSH3):c.76C>T (p.Arg26Ter) rs770190473 0.00001
NM_002439.5(MSH3):c.98G>A (p.Ser33Asn) rs1489972731 0.00001
NC_000005.9:g.(?_79950538)_(79950803_?)dup
NM_000791.4(DHFR):c.-264C>A rs369278563
NM_000791.4(DHFR):c.-406CGCTGCAGC[1] rs758595508
NM_000791.4(DHFR):c.-417_-416insGCGCTGCGGCCGCTGCGG rs758718643
NM_000791.4(DHFR):c.-418_-392del
NM_000791.4(DHFR):c.-425_-417dup rs1554066076
NM_000791.4(DHFR):c.-437GGGGCGCTG[1] rs60484572
NM_000791.4(DHFR):c.-437GGGGCGCTG[3] rs60484572
NM_000791.4(DHFR):c.-440C>G rs1223470400
NM_000791.4(DHFR):c.-442_-434del rs3045983
NM_002439.5(MSH3):c.110C>A (p.Thr37Asn) rs759573423
NM_002439.5(MSH3):c.112TCC[2] (p.Ser40del) rs1049679865
NM_002439.5(MSH3):c.115T>A (p.Ser39Thr) rs1580538013
NM_002439.5(MSH3):c.115T>G (p.Ser39Ala) rs1580538013
NM_002439.5(MSH3):c.122C>T (p.Thr41Ile) rs763928973
NM_002439.5(MSH3):c.131_138del (p.Ala44fs) rs2112797412
NM_002439.5(MSH3):c.137A>G (p.Gln46Arg) rs748434336
NM_002439.5(MSH3):c.138G>C (p.Gln46His) rs1749197468
NM_002439.5(MSH3):c.142G>A (p.Asp48Asn) rs1749197881
NM_002439.5(MSH3):c.146del (p.Pro49fs) rs1580538168
NM_002439.5(MSH3):c.148G>A (p.Gly50Ser) rs1749198806
NM_002439.5(MSH3):c.14del (p.Lys5fs) rs1749186228
NM_002439.5(MSH3):c.152C>G (p.Ala51Gly) rs2546710202
NM_002439.5(MSH3):c.153_170del (p.Ala57_Ala62del)
NM_002439.5(MSH3):c.15G>T (p.Lys5Asn) rs563338833
NM_002439.5(MSH3):c.15del (p.Lys5fs) rs2546709763
NM_002439.5(MSH3):c.160_178delinsC (p.Ala54_Ala60delinsPro)
NM_002439.5(MSH3):c.161del (p.Ala54fs) rs773094831
NM_002439.5(MSH3):c.162_179del (p.Ala57_Ala62del) rs201874762
NM_002439.5(MSH3):c.166_167insGGGCCGCAG (p.Ala55_Ala56insGlyAlaAla) rs1554066045
NM_002439.5(MSH3):c.169_196del (p.Ala57fs) rs2112797887
NM_002439.5(MSH3):c.172_189dup (p.Pro63_Pro64insAlaAlaAlaAlaAlaPro) rs1554066062
NM_002439.5(MSH3):c.177_178insCCCCCAGCGGCCGCAGCG (p.Ala59_Ala60insProProAlaAlaAlaAla)
NM_002439.5(MSH3):c.178_181delinsCCCC (p.Ala60_Ala61delinsProPro)
NM_002439.5(MSH3):c.181G>A (p.Ala61Thr) rs1574197
NM_002439.5(MSH3):c.191C>A (p.Pro64Gln) rs768692915
NM_002439.5(MSH3):c.196C>A (p.Pro66Thr) rs767295239
NM_002439.5(MSH3):c.196C>G (p.Pro66Ala) rs767295239
NM_002439.5(MSH3):c.196C>T (p.Pro66Ser) rs767295239
NM_002439.5(MSH3):c.199C>T (p.Pro67Ser)
NM_002439.5(MSH3):c.199_207dup (p.Pro69_Ala70insProAlaPro)
NM_002439.5(MSH3):c.200C>A (p.Pro67Gln) rs1460806829
NM_002439.5(MSH3):c.200C>G (p.Pro67Arg) rs1460806829
NM_002439.5(MSH3):c.200dup (p.Ala68fs) rs2546710663
NM_002439.5(MSH3):c.201_209del (p.Ala68_Ala70del)
NM_002439.5(MSH3):c.208G>C (p.Ala70Pro) rs765698219
NM_002439.5(MSH3):c.211_218dup (p.Gln74fs) rs2112798504
NM_002439.5(MSH3):c.211_230dup (p.His78fs) rs1749219575
NM_002439.5(MSH3):c.214C>T (p.Pro72Ser) rs1749220995
NM_002439.5(MSH3):c.215C>A (p.Pro72Gln) rs1404800640
NM_002439.5(MSH3):c.215C>T (p.Pro72Leu) rs1404800640
NM_002439.5(MSH3):c.215del (p.Pro72fs) rs1749220884
NM_002439.5(MSH3):c.220C>T (p.Gln74Ter) rs751800062
NM_002439.5(MSH3):c.222G>C (p.Gln74His) rs1279149249
NM_002439.5(MSH3):c.227CGC[3] (p.Pro77_His78insPro) rs1490449810
NM_002439.5(MSH3):c.230C>T (p.Pro77Leu) rs1258205404
NM_002439.5(MSH3):c.232C>T (p.His78Tyr) rs1313363087
NM_002439.5(MSH3):c.237+6T>G rs1580539072
NM_002439.5(MSH3):c.23C>T (p.Ser8Leu) rs2546709784
NM_002439.5(MSH3):c.4T>A (p.Ser2Thr) rs2546709729
NM_002439.5(MSH3):c.53C>T (p.Pro18Leu) rs1749189883
NM_002439.5(MSH3):c.55G>C (p.Ala19Pro) rs2546709873
NM_002439.5(MSH3):c.59G>A (p.Arg20Lys) rs1580537787
NM_002439.5(MSH3):c.77G>C (p.Arg26Pro) rs780517196
NM_002439.5(MSH3):c.7C>G (p.Arg3Gly) rs774455792
NM_002439.5(MSH3):c.7C>T (p.Arg3Cys) rs774455792
NM_002439.5(MSH3):c.96delinsCT (p.Gly32_Ser33insTer) rs2546709980
NM_002439.5(MSH3):c.97A>G (p.Ser33Gly) rs772142059

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