ClinVar Miner

List of variants reported as likely benign for Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 284
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HGVS dbSNP gnomAD frequency
NM_020806.5(GPHN):c.800A>G (p.Asn267Ser) rs41285470 0.00586
NM_020806.5(GPHN):c.2192G>C (p.Ser731Thr) rs142608987 0.00078
NM_020806.5(GPHN):c.1145-16T>C rs766723067 0.00022
NM_020806.5(GPHN):c.633A>G (p.Gln211=) rs151322023 0.00022
NM_020806.5(GPHN):c.1144+9A>G rs200060659 0.00021
NM_020806.5(GPHN):c.1971A>C (p.Leu657=) rs150799851 0.00017
NM_020806.5(GPHN):c.1911-7C>T rs201555766 0.00016
NM_020806.5(GPHN):c.1911-6T>C rs369800026 0.00013
NM_020806.5(GPHN):c.1173T>C (p.Asp391=) rs147709250 0.00009
NM_020806.5(GPHN):c.201+11G>A rs369973620 0.00009
NM_020806.5(GPHN):c.202-16T>A rs556470025 0.00009
NM_020806.5(GPHN):c.144-10C>T rs199759192 0.00008
NM_020806.5(GPHN):c.1248C>T (p.Gly416=) rs780211082 0.00006
NM_020806.5(GPHN):c.1563A>G (p.Val521=) rs779098838 0.00006
NM_020806.5(GPHN):c.1944T>C (p.Asp648=) rs761997982 0.00006
NM_020806.5(GPHN):c.65-12A>G rs373821253 0.00006
NM_020806.5(GPHN):c.964-20A>T rs375968477 0.00006
NM_020806.5(GPHN):c.1976-7C>T rs565205810 0.00005
NM_020806.5(GPHN):c.144-13C>T rs767891827 0.00004
NM_020806.5(GPHN):c.156T>C (p.Thr52=) rs778715897 0.00004
NM_020806.5(GPHN):c.1836+19G>A rs374404298 0.00004
NM_020806.5(GPHN):c.1857G>C (p.Leu619=) rs976474723 0.00004
NM_020806.5(GPHN):c.1989G>A (p.Ser663=) rs529026517 0.00004
NM_020806.5(GPHN):c.369A>G (p.Thr123=) rs767272331 0.00004
NM_020806.5(GPHN):c.909G>A (p.Ser303=) rs753770263 0.00004
NM_020806.5(GPHN):c.1413+12C>A rs755908672 0.00003
NM_020806.5(GPHN):c.1488C>T (p.Asp496=) rs761670163 0.00003
NM_020806.5(GPHN):c.225T>C (p.Asp75=) rs768963547 0.00003
NM_020806.5(GPHN):c.457-6A>G rs768570275 0.00003
NM_020806.5(GPHN):c.1145-20C>T rs761300504 0.00002
NM_020806.5(GPHN):c.1293+8T>G rs769473957 0.00002
NM_020806.5(GPHN):c.1413+13C>T rs777486676 0.00002
NM_020806.5(GPHN):c.1473-7C>A rs377262106 0.00002
NM_020806.5(GPHN):c.1716C>T (p.Tyr572=) rs1432243324 0.00002
NM_020806.5(GPHN):c.201+12C>T rs373068127 0.00002
NM_020806.5(GPHN):c.2022T>C (p.Pro674=) rs747423057 0.00002
NM_020806.5(GPHN):c.2176+17T>G rs371173068 0.00002
NM_020806.5(GPHN):c.2307A>G (p.Leu769=) rs747068379 0.00002
NM_020806.5(GPHN):c.564C>G (p.Ser188=) rs772179756 0.00002
NM_020806.5(GPHN):c.669T>C (p.Gly223=) rs1342866999 0.00002
NM_020806.5(GPHN):c.730-15T>C rs1452531100 0.00002
NM_020806.5(GPHN):c.771C>T (p.His257=) rs561779418 0.00002
NM_020806.5(GPHN):c.1020C>T (p.Val340=) rs763455984 0.00001
NM_020806.5(GPHN):c.1095A>G (p.Thr365=) rs1255825578 0.00001
NM_020806.5(GPHN):c.1113G>A (p.Pro371=) rs770812117 0.00001
NM_020806.5(GPHN):c.1140C>T (p.Tyr380=) rs760356358 0.00001
NM_020806.5(GPHN):c.1281A>G (p.Gln427=) rs146956552 0.00001
NM_020806.5(GPHN):c.1293+7T>C rs747784070 0.00001
NM_020806.5(GPHN):c.1404A>G (p.Glu468=) rs766600914 0.00001
NM_020806.5(GPHN):c.1441C>T (p.Leu481=) rs753681911 0.00001
NM_020806.5(GPHN):c.1584T>G (p.Val528=) rs1382914637 0.00001
NM_020806.5(GPHN):c.1617A>C (p.Thr539=) rs772232370 0.00001
NM_020806.5(GPHN):c.1722G>A (p.Thr574=) rs774161949 0.00001
NM_020806.5(GPHN):c.1836+18C>T rs957412039 0.00001
NM_020806.5(GPHN):c.1910+17G>T rs750327944 0.00001
NM_020806.5(GPHN):c.1975+19T>C rs751424941 0.00001
NM_020806.5(GPHN):c.2034A>G (p.Lys678=) rs1025367988 0.00001
NM_020806.5(GPHN):c.2080-4G>T rs760469629 0.00001
NM_020806.5(GPHN):c.2124G>A (p.Arg708=) rs761412853 0.00001
NM_020806.5(GPHN):c.2205C>T (p.Ser735=) rs754213780 0.00001
NM_020806.5(GPHN):c.2235A>G (p.Leu745=) rs2083293606 0.00001
NM_020806.5(GPHN):c.2244G>A (p.Lys748=) rs1595521691 0.00001
NM_020806.5(GPHN):c.2256C>T (p.Tyr752=) rs1443875641 0.00001
NM_020806.5(GPHN):c.337C>T (p.Leu113=) rs1001485812 0.00001
NM_020806.5(GPHN):c.357A>T (p.Ser119=) rs1477246900 0.00001
NM_020806.5(GPHN):c.389+19T>C rs377724622 0.00001
NM_020806.5(GPHN):c.651A>G (p.Glu217=) rs1009464001 0.00001
NM_020806.5(GPHN):c.723T>G (p.Ala241=) rs1238342228 0.00001
NM_020806.5(GPHN):c.72T>C (p.Asp24=) rs777651189 0.00001
NM_020806.5(GPHN):c.777A>G (p.Glu259=) rs1215169627 0.00001
NM_020806.5(GPHN):c.813T>C (p.His271=) rs1466356631 0.00001
NM_020806.5(GPHN):c.936C>T (p.Leu312=) rs746581893 0.00001
NM_020806.5(GPHN):c.963+7A>T rs1846707271 0.00001
NM_020806.5(GPHN):c.1006+14C>G
NM_020806.5(GPHN):c.1007-15T>C
NM_020806.5(GPHN):c.1007-6G>A
NM_020806.5(GPHN):c.1014T>C (p.Ser338=)
NM_020806.5(GPHN):c.1035G>A (p.Val345=)
NM_020806.5(GPHN):c.1074T>C (p.Ser358=)
NM_020806.5(GPHN):c.1113G>C (p.Pro371=)
NM_020806.5(GPHN):c.1116G>A (p.Val372=)
NM_020806.5(GPHN):c.1144+19A>G rs755336327
NM_020806.5(GPHN):c.114T>C (p.Asn38=)
NM_020806.5(GPHN):c.1155G>C (p.Gly385=)
NM_020806.5(GPHN):c.1164T>C (p.Leu388=) rs1595086345
NM_020806.5(GPHN):c.117C>G (p.Leu39=) rs2153395428
NM_020806.5(GPHN):c.1182A>C (p.Ala394=)
NM_020806.5(GPHN):c.1191T>C (p.Asn397=) rs535587671
NM_020806.5(GPHN):c.1200C>T (p.Pro400=)
NM_020806.5(GPHN):c.1203C>T (p.Phe401=)
NM_020806.5(GPHN):c.1233C>G (p.Val411=)
NM_020806.5(GPHN):c.1237+20T>A
NM_020806.5(GPHN):c.1238-11C>T rs2153678694
NM_020806.5(GPHN):c.1238-14G>C
NM_020806.5(GPHN):c.1238-14G>T
NM_020806.5(GPHN):c.1238-18C>T
NM_020806.5(GPHN):c.1238-7C>G
NM_020806.5(GPHN):c.1272G>A (p.Gly424=) rs1200380965
NM_020806.5(GPHN):c.1284T>C (p.Ala428=)
NM_020806.5(GPHN):c.12G>A (p.Glu4=)
NM_020806.5(GPHN):c.1305A>G (p.Thr435=) rs2153685260
NM_020806.5(GPHN):c.1327C>A (p.Arg443=)
NM_020806.5(GPHN):c.1356C>T (p.Cys452=)
NM_020806.5(GPHN):c.1362T>C (p.Ala454=)
NM_020806.5(GPHN):c.1389C>A (p.Thr463=) rs773577927
NM_020806.5(GPHN):c.1389C>T (p.Thr463=)
NM_020806.5(GPHN):c.1414-10G>C rs1595186662
NM_020806.5(GPHN):c.1414-13_1414-12insTCGG rs750716077
NM_020806.5(GPHN):c.1414-4A>G
NM_020806.5(GPHN):c.143+13C>G rs2066914077
NM_020806.5(GPHN):c.143+9T>C
NM_020806.5(GPHN):c.144-14T>C rs759867988
NM_020806.5(GPHN):c.144-18T>G
NM_020806.5(GPHN):c.1464A>G (p.Gln488=)
NM_020806.5(GPHN):c.1472+14A>C
NM_020806.5(GPHN):c.1472+18A>G
NM_020806.5(GPHN):c.1472+19G>A
NM_020806.5(GPHN):c.1472+8C>T rs1595187122
NM_020806.5(GPHN):c.1473-14G>C
NM_020806.5(GPHN):c.1473-17T>C
NM_020806.5(GPHN):c.1479C>T (p.Ile493=) rs764075352
NM_020806.5(GPHN):c.1482C>G (p.Gly494=)
NM_020806.5(GPHN):c.1527C>T (p.His509=)
NM_020806.5(GPHN):c.1590G>A (p.Lys530=) rs2078473953
NM_020806.5(GPHN):c.159A>C (p.Ile53=)
NM_020806.5(GPHN):c.1620G>A (p.Gly540=) rs2153686935
NM_020806.5(GPHN):c.1626+13A>T
NM_020806.5(GPHN):c.1626+17T>G rs1357227453
NM_020806.5(GPHN):c.1627-13T>C
NM_020806.5(GPHN):c.1627-15T>C
NM_020806.5(GPHN):c.1627-9G>T
NM_020806.5(GPHN):c.165A>G (p.Ala55=) rs753182110
NM_020806.5(GPHN):c.1668A>T (p.Arg556=)
NM_020806.5(GPHN):c.1686T>C (p.Thr562=) rs1595241496
NM_020806.5(GPHN):c.1710T>C (p.His570=)
NM_020806.5(GPHN):c.1748+12A>T
NM_020806.5(GPHN):c.1748+14G>A
NM_020806.5(GPHN):c.1748+15T>C rs2079061090
NM_020806.5(GPHN):c.1748+17A>G
NM_020806.5(GPHN):c.1748+19T>G rs2153692322
NM_020806.5(GPHN):c.1749-13T>A rs2153704862
NM_020806.5(GPHN):c.1749-15T>C rs371849325
NM_020806.5(GPHN):c.1749-16_1749-12del rs2080609035
NM_020806.5(GPHN):c.1749-17T>C
NM_020806.5(GPHN):c.1749-18_1749-13del
NM_020806.5(GPHN):c.1749-19T>C
NM_020806.5(GPHN):c.1749-7T>C
NM_020806.5(GPHN):c.1759T>C (p.Leu587=)
NM_020806.5(GPHN):c.1764C>G (p.Leu588=) rs2153704885
NM_020806.5(GPHN):c.1770C>T (p.Ala590=) rs2080612380
NM_020806.5(GPHN):c.1776T>C (p.Asn592=)
NM_020806.5(GPHN):c.1809A>G (p.Thr603=)
NM_020806.5(GPHN):c.1818T>C (p.Gly606=)
NM_020806.5(GPHN):c.1836+12A>T
NM_020806.5(GPHN):c.1836+18C>G rs957412039
NM_020806.5(GPHN):c.1836+9G>A
NM_020806.5(GPHN):c.1837-4G>A
NM_020806.5(GPHN):c.1837-8G>A
NM_020806.5(GPHN):c.1837-9T>C
NM_020806.5(GPHN):c.1842T>C (p.Tyr614=) rs2153717711
NM_020806.5(GPHN):c.1845C>T (p.Leu615=) rs2153717712
NM_020806.5(GPHN):c.1896T>G (p.Val632=) rs2081834037
NM_020806.5(GPHN):c.1905A>G (p.Lys635=) rs2153717732
NM_020806.5(GPHN):c.1908A>T (p.Pro636=) rs2153717736
NM_020806.5(GPHN):c.1910+11C>A
NM_020806.5(GPHN):c.1910+8A>C rs778997695
NM_020806.5(GPHN):c.1911-15_1911-14del
NM_020806.5(GPHN):c.1911-18A>G rs2082201850
NM_020806.5(GPHN):c.1911-4C>T
NM_020806.5(GPHN):c.1911-5T>C rs1595455743
NM_020806.5(GPHN):c.1912T>C (p.Leu638=) rs2140002386
NM_020806.5(GPHN):c.1917A>C (p.Pro639=)
NM_020806.5(GPHN):c.1923A>G (p.Thr641=)
NM_020806.5(GPHN):c.1929A>C (p.Ala643=) rs2140002558
NM_020806.5(GPHN):c.1947T>C (p.Gly649=)
NM_020806.5(GPHN):c.1968A>G (p.Ala656=)
NM_020806.5(GPHN):c.1975+15T>C rs2140003070
NM_020806.5(GPHN):c.1986A>G (p.Val662=) rs981625191
NM_020806.5(GPHN):c.1989G>T (p.Ser663=)
NM_020806.5(GPHN):c.201+17T>G rs373546341
NM_020806.5(GPHN):c.202-15A>G
NM_020806.5(GPHN):c.202-18A>G
NM_020806.5(GPHN):c.202-20A>G
NM_020806.5(GPHN):c.2028G>A (p.Leu676=) rs2140056921
NM_020806.5(GPHN):c.2064C>G (p.Thr688=)
NM_020806.5(GPHN):c.2079+13A>G
NM_020806.5(GPHN):c.2079+16G>A
NM_020806.5(GPHN):c.2079+7C>A
NM_020806.5(GPHN):c.2080-13C>T
NM_020806.5(GPHN):c.2080-17T>C
NM_020806.5(GPHN):c.2080-4G>A
NM_020806.5(GPHN):c.2080-6_2080-5del
NM_020806.5(GPHN):c.2085A>G (p.Ser695=)
NM_020806.5(GPHN):c.208C>T (p.Leu70=)
NM_020806.5(GPHN):c.2094A>G (p.Val698=)
NM_020806.5(GPHN):c.2109T>C (p.Arg703=)
NM_020806.5(GPHN):c.2118C>T (p.Tyr706=) rs2140195601
NM_020806.5(GPHN):c.2131C>T (p.Leu711=)
NM_020806.5(GPHN):c.2133A>G (p.Leu711=)
NM_020806.5(GPHN):c.2154A>G (p.Pro718=) rs2140195870
NM_020806.5(GPHN):c.2176+14A>T
NM_020806.5(GPHN):c.2176+19C>A
NM_020806.5(GPHN):c.2177-19T>A
NM_020806.5(GPHN):c.2197C>T (p.Leu733=)
NM_020806.5(GPHN):c.2227T>C (p.Leu743=) rs1248581157
NM_020806.5(GPHN):c.2253G>A (p.Gln751=)
NM_020806.5(GPHN):c.2286T>C (p.Asp762=)
NM_020806.5(GPHN):c.255T>A (p.Thr85=)
NM_020806.5(GPHN):c.270T>C (p.Phe90=)
NM_020806.5(GPHN):c.294+13A>C
NM_020806.5(GPHN):c.294+16C>T
NM_020806.5(GPHN):c.295-12C>T
NM_020806.5(GPHN):c.295-14_295-10del
NM_020806.5(GPHN):c.295-19A>C
NM_020806.5(GPHN):c.295-8A>G rs2153533803
NM_020806.5(GPHN):c.315A>G (p.Glu105=) rs759432514
NM_020806.5(GPHN):c.327A>G (p.Pro109=) rs1555430196
NM_020806.5(GPHN):c.357A>G (p.Ser119=) rs1477246900
NM_020806.5(GPHN):c.389+10T>C
NM_020806.5(GPHN):c.389+13C>G rs2153533857
NM_020806.5(GPHN):c.390-19A>C
NM_020806.5(GPHN):c.390-19A>G
NM_020806.5(GPHN):c.390-4T>C rs759324331
NM_020806.5(GPHN):c.396A>G (p.Val132=)
NM_020806.5(GPHN):c.417G>A (p.Thr139=)
NM_020806.5(GPHN):c.423A>C (p.Ile141=)
NM_020806.5(GPHN):c.429C>T (p.Asn143=)
NM_020806.5(GPHN):c.42A>G (p.Gln14=)
NM_020806.5(GPHN):c.456+11T>C
NM_020806.5(GPHN):c.456+16A>G
NM_020806.5(GPHN):c.457-15T>G rs966531598
NM_020806.5(GPHN):c.457-5T>C
NM_020806.5(GPHN):c.457-7C>A
NM_020806.5(GPHN):c.468A>G (p.Gln156=)
NM_020806.5(GPHN):c.484C>T (p.Leu162=) rs2153561455
NM_020806.5(GPHN):c.486A>C (p.Leu162=)
NM_020806.5(GPHN):c.495C>T (p.Ala165=)
NM_020806.5(GPHN):c.501C>T (p.Asp167=)
NM_020806.5(GPHN):c.516C>T (p.Ala172=) rs2153561468
NM_020806.5(GPHN):c.537G>A (p.Val179=) rs368771083
NM_020806.5(GPHN):c.576T>C (p.Pro192=)
NM_020806.5(GPHN):c.57C>A (p.Val19=)
NM_020806.5(GPHN):c.582C>G (p.Ser194=) rs142287862
NM_020806.5(GPHN):c.582C>T (p.Ser194=) rs142287862
NM_020806.5(GPHN):c.585T>G (p.Pro195=)
NM_020806.5(GPHN):c.597C>T (p.Thr199=)
NM_020806.5(GPHN):c.603C>G (p.Pro201=) rs2153561509
NM_020806.5(GPHN):c.60T>A (p.Leu20=)
NM_020806.5(GPHN):c.64+10G>A rs768831916
NM_020806.5(GPHN):c.64+16G>C
NM_020806.5(GPHN):c.64+7G>A rs758501355
NM_020806.5(GPHN):c.64+9G>C rs1555369179
NM_020806.5(GPHN):c.645G>A (p.Glu215=)
NM_020806.5(GPHN):c.65-16C>T rs1234425717
NM_020806.5(GPHN):c.65-6A>G
NM_020806.5(GPHN):c.65-9del
NM_020806.5(GPHN):c.654G>A (p.Glu218=)
NM_020806.5(GPHN):c.666T>C (p.Ser222=)
NM_020806.5(GPHN):c.684A>G (p.Glu228=) rs140585415
NM_020806.5(GPHN):c.696A>G (p.Ser232=)
NM_020806.5(GPHN):c.6G>T (p.Ala2=)
NM_020806.5(GPHN):c.729+13A>C
NM_020806.5(GPHN):c.730-15T>A rs1452531100
NM_020806.5(GPHN):c.730-7G>A
NM_020806.5(GPHN):c.768A>G (p.Ala256=)
NM_020806.5(GPHN):c.828+14C>G
NM_020806.5(GPHN):c.828+18T>G
NM_020806.5(GPHN):c.828+7C>T rs988027321
NM_020806.5(GPHN):c.828+8_828+9del rs764346460
NM_020806.5(GPHN):c.829-12C>T
NM_020806.5(GPHN):c.829-20T>A
NM_020806.5(GPHN):c.829-20T>C
NM_020806.5(GPHN):c.837C>T (p.Asp279=)
NM_020806.5(GPHN):c.867C>G (p.Leu289=)
NM_020806.5(GPHN):c.903A>G (p.Ser301=)
NM_020806.5(GPHN):c.963+11T>A rs201592727
NM_020806.5(GPHN):c.963+18G>A
NM_020806.5(GPHN):c.963+18_963+47del
NM_020806.5(GPHN):c.963+20A>G
NM_020806.5(GPHN):c.964-11T>C
NM_020806.5(GPHN):c.964-4A>G
NM_020806.5(GPHN):c.975G>A (p.Arg325=)
NM_020806.5(GPHN):c.978C>T (p.Cys326=) rs188690745
NM_020806.5(GPHN):c.9C>T (p.Thr3=) rs2057883967

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