ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 313
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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 0.00072
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 0.00019
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 0.00011
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.144-10C>T rs199759192 0.00008
NM_020806.5(GPHN):c.1836+19G>A rs374404298 0.00008
NM_020806.5(GPHN):c.86A>G (p.Asn29Ser) rs144247888 0.00007
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.964-20A>T rs375968477 0.00006
NM_020806.5(GPHN):c.1917A>C (p.Pro639=) rs760925979 0.00005
NM_020806.5(GPHN):c.294+16C>T rs373605696 0.00005
NM_020806.5(GPHN):c.65-12A>G rs373821253 0.00005
NM_020806.5(GPHN):c.156T>C (p.Thr52=) rs778715897 0.00004
NM_020806.5(GPHN):c.1857G>C (p.Leu619=) rs976474723 0.00004
NM_020806.5(GPHN):c.1923A>G (p.Thr641=) rs373496775 0.00004
NM_020806.5(GPHN):c.2080-13C>T rs377362584 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.1293+8T>G rs769473957 0.00003
NM_020806.5(GPHN):c.1356C>T (p.Cys452=) rs1381885192 0.00003
NM_020806.5(GPHN):c.1413+12C>A rs755908672 0.00003
NM_020806.5(GPHN):c.144-13C>T rs767891827 0.00003
NM_020806.5(GPHN):c.1488C>T (p.Asp496=) rs761670163 0.00003
NM_020806.5(GPHN):c.1749-17T>C rs2080608771 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.564C>G (p.Ser188=) rs772179756 0.00003
NM_020806.5(GPHN):c.829-20T>C rs377673677 0.00003
NM_020806.5(GPHN):c.1007-6G>A rs767327193 0.00002
NM_020806.5(GPHN):c.1145-20C>T rs761300504 0.00002
NM_020806.5(GPHN):c.1233C>G (p.Val411=) rs1439490001 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.1668A>T (p.Arg556=) rs371376446 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.202-16T>A rs556470025 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.730-15T>C rs1452531100 0.00002
NM_020806.5(GPHN):c.771C>T (p.His257=) rs561779418 0.00002
NM_020806.5(GPHN):c.963+20A>G rs2069246752 0.00002
NM_020806.5(GPHN):c.1007-15T>C rs372480654 0.00001
NM_020806.5(GPHN):c.1014T>C (p.Ser338=) rs760266445 0.00001
NM_020806.5(GPHN):c.1020C>T (p.Val340=) rs763455984 0.00001
NM_020806.5(GPHN):c.1035G>A (p.Val345=) rs751921155 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.1116G>A (p.Val372=) rs2075704206 0.00001
NM_020806.5(GPHN):c.1140C>T (p.Tyr380=) rs760356358 0.00001
NM_020806.5(GPHN):c.1191T>C (p.Asn397=) rs535587671 0.00001
NM_020806.5(GPHN):c.1203C>T (p.Phe401=) rs2077024810 0.00001
NM_020806.5(GPHN):c.1248C>T (p.Gly416=) rs780211082 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.144-14T>C rs759867988 0.00001
NM_020806.5(GPHN):c.1441C>T (p.Leu481=) rs753681911 0.00001
NM_020806.5(GPHN):c.1472+18A>G rs751659396 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.1626+13A>T rs1279084845 0.00001
NM_020806.5(GPHN):c.1722G>A (p.Thr574=) rs774161949 0.00001
NM_020806.5(GPHN):c.1748+12A>T rs1470717628 0.00001
NM_020806.5(GPHN):c.1748+14G>A rs758775019 0.00001
NM_020806.5(GPHN):c.1749-7T>C rs773611220 0.00001
NM_020806.5(GPHN):c.1836+18C>T rs957412039 0.00001
NM_020806.5(GPHN):c.1837-4G>A rs756320626 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.202-18A>G rs746370838 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.2131C>T (p.Leu711=) rs1321259550 0.00001
NM_020806.5(GPHN):c.2176+14A>T rs1460359101 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.294+13A>C rs1376066957 0.00001
NM_020806.5(GPHN):c.295-14_295-10del rs1390746231 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.390-19A>G rs2153558063 0.00001
NM_020806.5(GPHN):c.417G>A (p.Thr139=) rs763888545 0.00001
NM_020806.5(GPHN):c.429C>T (p.Asn143=) rs756862995 0.00001
NM_020806.5(GPHN):c.456+16A>G rs1449388654 0.00001
NM_020806.5(GPHN):c.468A>G (p.Gln156=) rs1201968286 0.00001
NM_020806.5(GPHN):c.65-6A>G rs769565502 0.00001
NM_020806.5(GPHN):c.651A>G (p.Glu217=) rs1009464001 0.00001
NM_020806.5(GPHN):c.669T>C (p.Gly223=) rs1342866999 0.00001
NM_020806.5(GPHN):c.696A>G (p.Ser232=) rs754195415 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.768A>G (p.Ala256=) rs1339274806 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.828+7C>T rs988027321 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+12A>G
NM_020806.5(GPHN):c.1006+14C>G rs2542172702
NM_020806.5(GPHN):c.1047T>C (p.His349=)
NM_020806.5(GPHN):c.1074T>C (p.Ser358=) rs1196720327
NM_020806.5(GPHN):c.1113G>C (p.Pro371=) rs770812117
NM_020806.5(GPHN):c.1144+19A>G rs755336327
NM_020806.5(GPHN):c.1144+8T>A
NM_020806.5(GPHN):c.114T>C (p.Asn38=) rs2548561074
NM_020806.5(GPHN):c.1155G>C (p.Gly385=) rs894378313
NM_020806.5(GPHN):c.1164T>C (p.Leu388=) rs1595086345
NM_020806.5(GPHN):c.1176A>G (p.Val392=)
NM_020806.5(GPHN):c.117C>G (p.Leu39=) rs2153395428
NM_020806.5(GPHN):c.1182A>C (p.Ala394=) rs1254418281
NM_020806.5(GPHN):c.1200C>T (p.Pro400=) rs2543059547
NM_020806.5(GPHN):c.1237+13G>T
NM_020806.5(GPHN):c.1237+20T>A rs2543061200
NM_020806.5(GPHN):c.1237+7A>G
NM_020806.5(GPHN):c.1238-11C>T rs2153678694
NM_020806.5(GPHN):c.1238-14G>C rs367575676
NM_020806.5(GPHN):c.1238-14G>T rs367575676
NM_020806.5(GPHN):c.1238-18C>T rs754029705
NM_020806.5(GPHN):c.1238-19G>T
NM_020806.5(GPHN):c.1238-7C>G rs1316293486
NM_020806.5(GPHN):c.1272G>A (p.Gly424=) rs1200380965
NM_020806.5(GPHN):c.127G>A (p.Val43Ile) rs117256383
NM_020806.5(GPHN):c.1284T>C (p.Ala428=) rs2077664994
NM_020806.5(GPHN):c.1293+17T>G
NM_020806.5(GPHN):c.1293+9G>A
NM_020806.5(GPHN):c.1294-12C>G
NM_020806.5(GPHN):c.12G>A (p.Glu4=) rs2547721122
NM_020806.5(GPHN):c.1305A>G (p.Thr435=) rs2153685260
NM_020806.5(GPHN):c.1327C>A (p.Arg443=) rs376650247
NM_020806.5(GPHN):c.1332T>C (p.Val444=)
NM_020806.5(GPHN):c.1362T>C (p.Ala454=) rs2543380893
NM_020806.5(GPHN):c.1389C>A (p.Thr463=) rs773577927
NM_020806.5(GPHN):c.1389C>T (p.Thr463=) rs773577927
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 rs111956954
NM_020806.5(GPHN):c.143+13C>G rs2066914077
NM_020806.5(GPHN):c.143+15T>C
NM_020806.5(GPHN):c.143+9T>C rs183022603
NM_020806.5(GPHN):c.144-18T>G rs1330088037
NM_020806.5(GPHN):c.1464A>G (p.Gln488=) rs2543395196
NM_020806.5(GPHN):c.1472+14A>C rs1197461579
NM_020806.5(GPHN):c.1472+16A>G
NM_020806.5(GPHN):c.1472+19G>A rs1182488837
NM_020806.5(GPHN):c.1472+8C>T rs1595187122
NM_020806.5(GPHN):c.1473-14G>C rs746020808
NM_020806.5(GPHN):c.1473-14G>T
NM_020806.5(GPHN):c.1473-17T>C rs2543402334
NM_020806.5(GPHN):c.1479C>T (p.Ile493=) rs764075352
NM_020806.5(GPHN):c.1482C>G (p.Gly494=) rs2543402516
NM_020806.5(GPHN):c.1527C>T (p.His509=) rs750109574
NM_020806.5(GPHN):c.1590G>A (p.Lys530=) rs2078473953
NM_020806.5(GPHN):c.159A>C (p.Ile53=) rs1474510355
NM_020806.5(GPHN):c.1620G>A (p.Gly540=) rs2153686935
NM_020806.5(GPHN):c.1626+17T>G rs1357227453
NM_020806.5(GPHN):c.1627-13T>C rs779444753
NM_020806.5(GPHN):c.1627-15T>C rs1315714243
NM_020806.5(GPHN):c.1627-9G>T rs1236615577
NM_020806.5(GPHN):c.165A>G (p.Ala55=) rs753182110
NM_020806.5(GPHN):c.1686T>C (p.Thr562=) rs1595241496
NM_020806.5(GPHN):c.1710T>C (p.His570=) rs2079057334
NM_020806.5(GPHN):c.1748+11G>T
NM_020806.5(GPHN):c.1748+15T>C rs2079061090
NM_020806.5(GPHN):c.1748+17A>G rs2543526881
NM_020806.5(GPHN):c.1748+19T>G rs2153692322
NM_020806.5(GPHN):c.1748+20C>G
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.1749-18_1749-13del rs2543886435
NM_020806.5(GPHN):c.1749-19T>C rs2543886622
NM_020806.5(GPHN):c.1759T>C (p.Leu587=) rs2543887342
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=) rs2543887734
NM_020806.5(GPHN):c.1809A>G (p.Thr603=) rs2543888335
NM_020806.5(GPHN):c.1818T>C (p.Gly606=) rs749271656
NM_020806.5(GPHN):c.1836+12A>T rs2543889163
NM_020806.5(GPHN):c.1836+15G>A
NM_020806.5(GPHN):c.1836+18C>G rs957412039
NM_020806.5(GPHN):c.1836+9G>A rs1443451770
NM_020806.5(GPHN):c.1837-8G>A rs1244894998
NM_020806.5(GPHN):c.1837-9T>C rs2544154625
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 rs2081835353
NM_020806.5(GPHN):c.1910+8A>C rs778997695
NM_020806.5(GPHN):c.1911-15_1911-14del rs753552225
NM_020806.5(GPHN):c.1911-18A>G rs2082201850
NM_020806.5(GPHN):c.1911-4C>T rs1221261025
NM_020806.5(GPHN):c.1911-5T>C rs1595455743
NM_020806.5(GPHN):c.1911-9T>A
NM_020806.5(GPHN):c.1912T>C (p.Leu638=) rs2140002386
NM_020806.5(GPHN):c.1929A>C (p.Ala643=) rs2140002558
NM_020806.5(GPHN):c.1947T>C (p.Gly649=) rs765357772
NM_020806.5(GPHN):c.1968A>G (p.Ala656=) rs2544241435
NM_020806.5(GPHN):c.1975+15T>C rs2140003070
NM_020806.5(GPHN):c.1975+17_1975+21dup
NM_020806.5(GPHN):c.201+17T>G rs373546341
NM_020806.5(GPHN):c.202-15A>G rs2061321775
NM_020806.5(GPHN):c.202-19T>C
NM_020806.5(GPHN):c.202-20A>G rs779620017
NM_020806.5(GPHN):c.2080-17T>C rs2544477604
NM_020806.5(GPHN):c.2080-4G>A rs760469629
NM_020806.5(GPHN):c.2080-6_2080-5del rs2544477812
NM_020806.5(GPHN):c.2085A>G (p.Ser695=) rs2083213739
NM_020806.5(GPHN):c.208C>T (p.Leu70=) rs2549283882
NM_020806.5(GPHN):c.2094A>G (p.Val698=) rs753557720
NM_020806.5(GPHN):c.2109T>C (p.Arg703=) rs2544478242
NM_020806.5(GPHN):c.2118C>T (p.Tyr706=) rs2140195601
NM_020806.5(GPHN):c.2133A>G (p.Leu711=) rs764919711
NM_020806.5(GPHN):c.2154A>G (p.Pro718=) rs2140195870
NM_020806.5(GPHN):c.2176+19C>A rs751948363
NM_020806.5(GPHN):c.2176+19C>G
NM_020806.5(GPHN):c.2177-19T>A rs1595521461
NM_020806.5(GPHN):c.2197C>T (p.Leu733=) rs2544496665
NM_020806.5(GPHN):c.2227T>C (p.Leu743=) rs1248581157
NM_020806.5(GPHN):c.2253G>A (p.Gln751=) rs2544497178
NM_020806.5(GPHN):c.2286T>C (p.Asp762=) rs11544391
NM_020806.5(GPHN):c.255T>A (p.Thr85=) rs2061323264
NM_020806.5(GPHN):c.270T>C (p.Phe90=) rs2549284255
NM_020806.5(GPHN):c.295-12C>T rs375167601
NM_020806.5(GPHN):c.295-19A>C rs2063850611
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 rs2549499324
NM_020806.5(GPHN):c.389+13C>G rs2153533857
NM_020806.5(GPHN):c.390-19A>C rs2153558063
NM_020806.5(GPHN):c.390-4T>C rs759324331
NM_020806.5(GPHN):c.390-7C>T
NM_020806.5(GPHN):c.396A>G (p.Val132=) rs2549597685
NM_020806.5(GPHN):c.411G>A (p.Gly137=)
NM_020806.5(GPHN):c.423A>C (p.Ile141=) rs2549597725
NM_020806.5(GPHN):c.42A>G (p.Gln14=) rs750981506
NM_020806.5(GPHN):c.456+10C>G
NM_020806.5(GPHN):c.456+11T>C rs375607651
NM_020806.5(GPHN):c.456+19T>C
NM_020806.5(GPHN):c.457-15T>G rs966531598
NM_020806.5(GPHN):c.457-18T>C
NM_020806.5(GPHN):c.457-5T>C rs2549614805
NM_020806.5(GPHN):c.457-7C>A rs1377270662
NM_020806.5(GPHN):c.484C>T (p.Leu162=) rs2153561455
NM_020806.5(GPHN):c.486A>C (p.Leu162=) rs1381760999
NM_020806.5(GPHN):c.486A>G (p.Leu162=)
NM_020806.5(GPHN):c.495C>T (p.Ala165=) rs2549614928
NM_020806.5(GPHN):c.501C>T (p.Asp167=) rs749859135
NM_020806.5(GPHN):c.516C>T (p.Ala172=) rs2153561468
NM_020806.5(GPHN):c.534G>A (p.Glu178=)
NM_020806.5(GPHN):c.537G>A (p.Val179=) rs368771083
NM_020806.5(GPHN):c.576T>C (p.Pro192=) rs1596381321
NM_020806.5(GPHN):c.57C>A (p.Val19=) rs779084451
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=) rs2066289234
NM_020806.5(GPHN):c.588T>G (p.Pro196=)
NM_020806.5(GPHN):c.597C>T (p.Thr199=) rs2549615295
NM_020806.5(GPHN):c.603C>G (p.Pro201=) rs2153561509
NM_020806.5(GPHN):c.60T>A (p.Leu20=) rs2547721381
NM_020806.5(GPHN):c.64+10G>A rs768831916
NM_020806.5(GPHN):c.64+10G>C
NM_020806.5(GPHN):c.64+16G>C rs748093636
NM_020806.5(GPHN):c.64+7G>A rs758501355
NM_020806.5(GPHN):c.64+9G>A
NM_020806.5(GPHN):c.64+9G>C rs1555369179
NM_020806.5(GPHN):c.645G>A (p.Glu215=) rs2066291413
NM_020806.5(GPHN):c.65-16C>T rs1234425717
NM_020806.5(GPHN):c.65-9del rs2548560810
NM_020806.5(GPHN):c.654G>A (p.Glu218=) rs2549615465
NM_020806.5(GPHN):c.666T>C (p.Ser222=) rs2549615494
NM_020806.5(GPHN):c.684A>G (p.Glu228=) rs140585415
NM_020806.5(GPHN):c.6G>T (p.Ala2=) rs2547721085
NM_020806.5(GPHN):c.729+13A>C rs2549615808
NM_020806.5(GPHN):c.729+17T>C
NM_020806.5(GPHN):c.729+18T>G
NM_020806.5(GPHN):c.729+20C>T
NM_020806.5(GPHN):c.730-15T>A rs1452531100
NM_020806.5(GPHN):c.730-7G>A rs2549619525
NM_020806.5(GPHN):c.789T>A (p.Pro263=)
NM_020806.5(GPHN):c.828+14C>G rs2066367253
NM_020806.5(GPHN):c.828+15T>A
NM_020806.5(GPHN):c.828+18T>G rs2549620185
NM_020806.5(GPHN):c.828+8_828+9del rs764346460
NM_020806.5(GPHN):c.829-12C>T rs748638918
NM_020806.5(GPHN):c.829-20T>A rs377673677
NM_020806.5(GPHN):c.837C>T (p.Asp279=) rs922557984
NM_020806.5(GPHN):c.867C>G (p.Leu289=) rs369986346
NM_020806.5(GPHN):c.903A>G (p.Ser301=) rs2549782501
NM_020806.5(GPHN):c.963+11T>A rs201592727
NM_020806.5(GPHN):c.963+17C>T
NM_020806.5(GPHN):c.963+18G>A rs376856913
NM_020806.5(GPHN):c.963+18_963+47del rs2549783286
NM_020806.5(GPHN):c.963+19C>T
NM_020806.5(GPHN):c.964-11T>C rs780234459
NM_020806.5(GPHN):c.964-4A>G rs747289580
NM_020806.5(GPHN):c.975G>A (p.Arg325=) rs1417482996
NM_020806.5(GPHN):c.978C>T (p.Cys326=) rs188690745
NM_020806.5(GPHN):c.9C>T (p.Thr3=) rs2057883967

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