ClinVar Miner

List of variants in gene MLH1 reported as pathogenic for 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 144
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HGVS dbSNP
NC_000003.11:g.(?_37038104)_(37092150_?)del
NC_000003.12:g.(?_36996609)_(37001063_?)del
NC_000003.12:g.(?_37004391)_(37014554_?)del
NC_000003.12:g.(?_37011810)_(37014554_?)del
NC_000003.12:g.(?_37014426)_(37028938_?)del
NC_000003.12:g.(?_37020300)_(37050663_?)del
NC_000003.12:g.(?_37040180)_(37050659_?)del
NC_000003.12:g.(?_37047509)_(37050663_?)del
NC_000003.12:g.(?_37047513)_(37047689_?)del
NC_000003.12:g.(?_37050480)_(37050659_?)del
NM_000249.3(MLH1):c.-27C>A rs587779001
NM_000249.3(MLH1):c.1011_1014delCAATinsAATGTGCA (p.Asn338Metfs) rs1553648195
NM_000249.3(MLH1):c.1046dupT (p.Pro350Thrfs) rs267607822
NM_000249.3(MLH1):c.1047_1049delACCinsT (p.Pro350Argfs)
NM_000249.3(MLH1):c.1105dupT (p.Ser369Phefs) rs1060500699
NM_000249.3(MLH1):c.113A>G (p.Asn38Ser) rs587778888
NM_000249.3(MLH1):c.116+5G>C rs267607710
NM_000249.3(MLH1):c.117-2A>G rs267607712
NM_000249.3(MLH1):c.1190delT (p.Leu397Argfs) rs63750749
NM_000249.3(MLH1):c.1210_1211delCT (p.Leu404Valfs) rs63751015
NM_000249.3(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.3(MLH1):c.1225C>T (p.Gln409Ter) rs63751153
NM_000249.3(MLH1):c.1246A>T (p.Lys416Ter) rs267607823
NM_000249.3(MLH1):c.1261delAinsTAT (p.Ser421Tyrfs) rs1553651130
NM_000249.3(MLH1):c.1276C>T (p.Gln426Ter) rs63750316
NM_000249.3(MLH1):c.1279C>T (p.Gln427Ter)
NM_000249.3(MLH1):c.1297G>T (p.Glu433Ter) rs63750443
NM_000249.3(MLH1):c.1315G>T (p.Glu439Ter) rs1302248679
NM_000249.3(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.3(MLH1):c.1409+1G>A rs267607825
NM_000249.3(MLH1):c.1411_1414delAAGA (p.Lys471Aspfs) rs63751592
NM_000249.3(MLH1):c.1415_1416delGA (p.Arg472Thrfs) rs281864936
NM_000249.3(MLH1):c.1447delG (p.Glu483Lysfs) rs1553652930
NM_000249.3(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.3(MLH1):c.1489_1490insCG (p.Arg497Profs) rs1553653037
NM_000249.3(MLH1):c.1489delC (p.Arg497Glyfs) rs63750855
NM_000249.3(MLH1):c.1489dupC (p.Arg497Profs) rs63750855
NM_000249.3(MLH1):c.1522_1523delAG (p.Leu509Profs) rs876658821
NM_000249.3(MLH1):c.1526delT (p.Leu509Profs) rs1553653158
NM_000249.3(MLH1):c.1528C>T (p.Gln510Ter) rs63749923
NM_000249.3(MLH1):c.1559-1G>C rs267607837
NM_000249.3(MLH1):c.1559-2A>C rs267607836
NM_000249.3(MLH1):c.156delA (p.Glu53Argfs) rs63750028
NM_000249.3(MLH1):c.156dupA (p.Glu53Argfs) rs63750028
NM_000249.3(MLH1):c.1597delT (p.Cys533Valfs)
NM_000249.3(MLH1):c.1613G>A (p.Trp538Ter) rs587778933
NM_000249.3(MLH1):c.1667+1G>A rs1434898623
NM_000249.3(MLH1):c.1668-1G>A rs267607845
NM_000249.3(MLH1):c.1683C>G (p.Tyr561Ter) rs63751393
NM_000249.3(MLH1):c.1690_1693delCTCA (p.Leu564Phefs) rs267607849
NM_000249.3(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.3(MLH1):c.1732-2A>C rs267607852
NM_000249.3(MLH1):c.1772_1775delATAG (p.Asp591Valfs) rs63749868
NM_000249.3(MLH1):c.1783_1784delAG (p.Ser595Trpfs) rs63750035
NM_000249.3(MLH1):c.1785_1786insCCAGATAGTCCAGA (p.Gly596Profs) rs1553662800
NM_000249.3(MLH1):c.1790_1791delGGinsATCTGGACC (p.Trp597Tyrfs) rs863225378
NM_000249.3(MLH1):c.1791G>A (p.Trp597Ter) rs1416171624
NM_000249.3(MLH1):c.184C>T (p.Gln62Ter) rs63751428
NM_000249.3(MLH1):c.1852_1854delAAG (p.Lys618del) rs587782285
NM_000249.3(MLH1):c.1877delT (p.Phe626Serfs) rs63750152
NM_000249.3(MLH1):c.1896+1G>A rs267607867
NM_000249.3(MLH1):c.1896+1G>T rs267607867
NM_000249.3(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.3(MLH1):c.1946delC (p.Pro649Leufs) rs281864938
NM_000249.3(MLH1):c.1956_1957delAC (p.Leu653Alafs) rs1553663981
NM_000249.3(MLH1):c.195delCinsATCTT (p.Thr66Serfs) rs1553638868
NM_000249.3(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.3(MLH1):c.1989G>T (p.Glu663Asp) rs63751662
NM_000249.3(MLH1):c.1990-2A>G rs267607883
NM_000249.3(MLH1):c.1997G>A (p.Trp666Ter) rs886039424
NM_000249.3(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.3(MLH1):c.199G>C (p.Gly67Arg) rs63750206
NM_000249.3(MLH1):c.1A>G (p.Met1Val) rs587778967
NM_000249.3(MLH1):c.200G>A (p.Gly67Glu) rs63749939
NM_000249.3(MLH1):c.2035G>T (p.Glu679Ter) rs587778971
NM_000249.3(MLH1):c.2040C>A (p.Cys680Ter) rs63749867
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.2044_2045delAT (p.Met682Valfs) rs878853785
NM_000249.3(MLH1):c.2059C>T (p.Arg687Trp) rs63751275
NM_000249.3(MLH1):c.2065C>T (p.Gln689Ter) rs41542214
NM_000249.3(MLH1):c.2070C>A (p.Tyr690Ter) rs550890395
NM_000249.3(MLH1):c.2070_2071insTT (p.Ile691Leufs) rs876659681
NM_000249.3(MLH1):c.208-1G>A rs267607717
NM_000249.3(MLH1):c.2093C>G (p.Ser698Ter) rs587778975
NM_000249.3(MLH1):c.209_215delAAGAAGA (p.Lys70Ilefs) rs730881734
NM_000249.3(MLH1):c.2135G>A (p.Trp712Ter) rs63750561
NM_000249.3(MLH1):c.213_215delAGA (p.Glu71del) rs63751642
NM_000249.3(MLH1):c.2161_2191dup (p.Pro731Leufs) rs1553665683
NM_000249.3(MLH1):c.2190delT (p.Pro731Leufs) rs587780683
NM_000249.3(MLH1):c.2194A>T (p.Lys732Ter) rs267607906
NM_000249.3(MLH1):c.2206G>T (p.Glu736Ter) rs876659608
NM_000249.3(MLH1):c.2212G>T (p.Gly738Ter) rs1553665866
NM_000249.3(MLH1):c.2249dupA (p.Tyr750Terfs) rs878853787
NM_000249.3(MLH1):c.2252_2253delAA (p.Lys751Serfs) rs267607901
NM_000249.3(MLH1):c.2252_2253dupAA (p.Val752Lysfs) rs267607901
NM_000249.3(MLH1):c.2253delA (p.Val752Serfs)
NM_000249.3(MLH1):c.2259delT (p.Phe753Leufs) rs1060500698
NM_000249.3(MLH1):c.2263_2264delAG (p.Arg755Valfs)
NM_000249.3(MLH1):c.232delG (p.Glu78Lysfs) rs587778997
NM_000249.3(MLH1):c.244A>G (p.Thr82Ala) rs587778998
NM_000249.3(MLH1):c.283delT (p.Ser95Leufs) rs1064795441
NM_000249.3(MLH1):c.298C>T (p.Arg100Ter) rs63751221
NM_000249.3(MLH1):c.306+1G>A rs267607734
NM_000249.3(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.3(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.3(MLH1):c.37G>T (p.Glu13Ter) rs587779008
NM_000249.3(MLH1):c.404dup (p.Lys136Glufs) rs1553642079
NM_000249.3(MLH1):c.436C>T (p.Gln146Ter) rs63749820
NM_000249.3(MLH1):c.453+1G>C rs267607750
NM_000249.3(MLH1):c.474delC (p.Asn158Lysfs)
NM_000249.3(MLH1):c.503dupA (p.Asn168Lysfs) rs63749959
NM_000249.3(MLH1):c.532G>T (p.Glu178Ter) rs1248251121
NM_000249.3(MLH1):c.544A>G (p.Arg182Gly) rs63750211
NM_000249.3(MLH1):c.546-2A>G rs267607759
NM_000249.3(MLH1):c.551C>G (p.Ser184Ter) rs1064796057
NM_000249.3(MLH1):c.588+5G>A rs267607768
NM_000249.3(MLH1):c.589-2A>G rs267607767
NM_000249.3(MLH1):c.589C>T (p.Gln197Ter) rs1553644123
NM_000249.3(MLH1):c.626delA (p.Asn209Metfs)
NM_000249.3(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.3(MLH1):c.677+1G>A rs267607778
NM_000249.3(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.3(MLH1):c.67dupG (p.Glu23Glyfs) rs63750822
NM_000249.3(MLH1):c.727_730delAATG (p.Asn243Valfs) rs267607787
NM_000249.3(MLH1):c.735C>A (p.Tyr245Ter)
NM_000249.3(MLH1):c.790+1G>A rs267607789
NM_000249.3(MLH1):c.790+2dupT rs267607791
NM_000249.3(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.3(MLH1):c.793delC (p.Arg265Valfs) rs863225384
NM_000249.3(MLH1):c.796delC (p.Leu266Trpfs) rs1553646602
NM_000249.3(MLH1):c.806C>G (p.Ser269Ter) rs63750691
NM_000249.3(MLH1):c.815T>A (p.Leu272Ter)
NM_000249.3(MLH1):c.833_834dup (p.Val279Glnfs) rs1553646681
NM_000249.3(MLH1):c.845_858delCCTATTTGCCCAAA (p.Ala282Glufs)
NM_000249.3(MLH1):c.884+4A>G rs267607777
NM_000249.3(MLH1):c.885-2A>G rs267607805
NM_000249.3(MLH1):c.939dupA (p.Val314Serfs) rs63751259
NM_000249.3(MLH1):c.940delG (p.Val314Phefs) rs1553648023
NM_000249.3(MLH1):c.957_959delGGAinsT (p.Glu319Aspfs)
NM_000249.3(MLH1):c.971dupA (p.Arg325Alafs) rs587781554
NM_000249.3(MLH1):c.979C>T (p.Gln327Ter) rs587782087
NM_000249.3(MLH1):c.997_1000delAAGC (p.Lys333Serfs) rs1553648149
NM_000249.3(MLH1):c.9_21delCGTGGCAGGGGTT (p.Phe3Leufs) rs1064795341
NM_001167618.1(MLH1):c.1456_1459delCACA (p.His486Phefs) rs267607898

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