ClinVar Miner

List of variants in gene POR reported as uncertain significance for 46,XY disorder of sex development of gynecological interest

Included ClinVar conditions (14):
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Gene type:
ClinVar version:
Total variants: 109
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HGVS dbSNP
NC_000007.14:g.75915138G>C
NM_000941.2(POR):c.-33G>T rs72553977
NM_000941.2(POR):c.-80A>C rs886062437
NM_000941.3(POR):c.*137G>A rs886062443
NM_000941.3(POR):c.*178C>T
NM_000941.3(POR):c.*179G>A rs184275273
NM_000941.3(POR):c.*218C>T
NM_000941.3(POR):c.*219G>T
NM_000941.3(POR):c.*21C>A rs782245884
NM_000941.3(POR):c.*240C>T rs13921
NM_000941.3(POR):c.*273T>C
NM_000941.3(POR):c.*291G>A rs886062445
NM_000941.3(POR):c.*33C>T
NM_000941.3(POR):c.*40T>G
NM_000941.3(POR):c.*51C>T
NM_000941.3(POR):c.*60C>T rs72557960
NM_000941.3(POR):c.*63C>T
NM_000941.3(POR):c.*76G>A rs55909219
NM_000941.3(POR):c.-5+8C>G
NM_000941.3(POR):c.-5+9T>C
NM_000941.3(POR):c.-5G>A rs886062438
NM_000941.3(POR):c.-5G>C rs886062438
NM_000941.3(POR):c.-5G>T rs886062438
NM_000941.3(POR):c.1000G>A (p.Val334Ile)
NM_000941.3(POR):c.1042G>A (p.Val348Ile)
NM_000941.3(POR):c.1101T>A (p.Pro367=) rs782729580
NM_000941.3(POR):c.1104G>A (p.Thr368=) rs150414675
NM_000941.3(POR):c.112G>A (p.Val38Met)
NM_000941.3(POR):c.1152G>A (p.Pro384=)
NM_000941.3(POR):c.1161C>T (p.Asn387=)
NM_000941.3(POR):c.1185C>T (p.Tyr395=)
NM_000941.3(POR):c.1191G>A (p.Ser397=)
NM_000941.3(POR):c.1200G>A (p.Ser400=) rs372401863
NM_000941.3(POR):c.1217G>A (p.Arg406His)
NM_000941.3(POR):c.1245C>T (p.Gly415=)
NM_000941.3(POR):c.1265G>T (p.Trp422Leu)
NM_000941.3(POR):c.1384G>A (p.Ala462Thr)
NM_000941.3(POR):c.1384G>C (p.Ala462Pro) rs72557936
NM_000941.3(POR):c.1398+10G>A
NM_000941.3(POR):c.1398+15T>A
NM_000941.3(POR):c.1414G>C (p.Val472Leu)
NM_000941.3(POR):c.1491G>T (p.Leu497=) rs370326231
NM_000941.3(POR):c.1501G>A (p.Glu501Lys) rs782697310
NM_000941.3(POR):c.1519G>A (p.Gly507Ser)
NM_000941.3(POR):c.1521C>T (p.Gly507=) rs370823127
NM_000941.3(POR):c.1564C>T (p.Arg522Cys) rs782533830
NM_000941.3(POR):c.1587G>A (p.Thr529=)
NM_000941.3(POR):c.158A>T (p.Glu53Val) rs376145249
NM_000941.3(POR):c.1594A>G (p.Ile532Val) rs886062442
NM_000941.3(POR):c.159A>C (p.Glu53Asp) rs370701548
NM_000941.3(POR):c.1609G>C (p.Gly537Arg)
NM_000941.3(POR):c.1660C>T (p.Arg554Ter) rs782336856
NM_000941.3(POR):c.1669+5G>C
NM_000941.3(POR):c.1670-4G>A rs372733766
NM_000941.3(POR):c.169T>C (p.Phe57Leu) rs782711779
NM_000941.3(POR):c.1702G>A (p.Gly568Ser) rs779082897
NM_000941.3(POR):c.1715C>T (p.Ser572Leu)
NM_000941.3(POR):c.1730T>C (p.Leu577Pro) rs56256515
NM_000941.3(POR):c.1759A>G (p.Arg587Gly) rs781795917
NM_000941.3(POR):c.1764C>T (p.Asp588=) rs72557949
NM_000941.3(POR):c.1815+12G>A rs371432868
NM_000941.3(POR):c.1815+7C>T rs72557951
NM_000941.3(POR):c.1815+8G>A rs72557952
NM_000941.3(POR):c.1876G>A (p.Gly626Ser)
NM_000941.3(POR):c.189-10T>C rs374111607
NM_000941.3(POR):c.1891G>A (p.Val631Ile) rs145782750
NM_000941.3(POR):c.1898+13G>T rs72557956
NM_000941.3(POR):c.1898+3G>A rs41301439
NM_000941.3(POR):c.1935C>T (p.Thr645=)
NM_000941.3(POR):c.1948G>A (p.Val650Met) rs148175064
NM_000941.3(POR):c.1953T>G (p.Ala651=) rs370865328
NM_000941.3(POR):c.214T>C (p.Phe72Leu) rs782107314
NM_000941.3(POR):c.235A>G (p.Thr79Ala)
NM_000941.3(POR):c.238-5C>T
NM_000941.3(POR):c.317A>G (p.His106Arg)
NM_000941.3(POR):c.320G>A (p.Arg107His)
NM_000941.3(POR):c.324C>T (p.Tyr108=)
NM_000941.3(POR):c.325G>A (p.Gly109Arg) rs372623440
NM_000941.3(POR):c.366+14G>A rs372941705
NM_000941.3(POR):c.369C>T (p.Ala123=) rs41299490
NM_000941.3(POR):c.399C>T (p.Asn133=) rs181837747
NM_000941.3(POR):c.429C>T (p.Tyr143=)
NM_000941.3(POR):c.469G>A (p.Asp157Asn)
NM_000941.3(POR):c.490G>A (p.Val164Met) rs200112691
NM_000941.3(POR):c.513C>G (p.Phe171Leu) rs372715546
NM_000941.3(POR):c.513C>T (p.Phe171=)
NM_000941.3(POR):c.515C>T (p.Ala172Val) rs374967948
NM_000941.3(POR):c.517-4G>A rs41299496
NM_000941.3(POR):c.561G>T (p.Met187Ile)
NM_000941.3(POR):c.569A>G (p.Tyr190Cys)
NM_000941.3(POR):c.571G>A (p.Val191Met) rs201513102
NM_000941.3(POR):c.571G>C (p.Val191Leu) rs201513102
NM_000941.3(POR):c.624G>A (p.Leu208=)
NM_000941.3(POR):c.642-5C>G rs72555509
NM_000941.3(POR):c.683C>T (p.Pro228Leu) rs17853284
NM_000941.3(POR):c.687C>T (p.Ala229=) rs72557906
NM_000941.3(POR):c.719G>A (p.Gly240Asp)
NM_000941.3(POR):c.744C>T (p.Tyr248=) rs201786397
NM_000941.3(POR):c.830+15C>T rs540000393
NM_000941.3(POR):c.830C>T (p.Pro277Leu)
NM_000941.3(POR):c.87G>A (p.Thr29=) rs41295381
NM_000941.3(POR):c.897C>T (p.Thr299=) rs180683888
NM_000941.3(POR):c.898G>A (p.Glu300Lys)
NM_000941.3(POR):c.947+10G>A
NM_000941.3(POR):c.947+3A>G rs782232516
NM_000941.3(POR):c.947G>C (p.Arg316Thr)
NM_000941.3(POR):c.948-14A>C rs886062441
NM_000941.3(POR):c.984C>T (p.Ala328=) rs72557941
NM_000941.3(POR):c.999C>T (p.Leu333=) rs376830846

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