ClinVar Miner

List of variants studied for oculocutaneous albinism by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 276
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HGVS dbSNP gnomAD frequency
NM_016180.5(SLC45A2):c.987A>G (p.Thr329=) rs2287949 0.95123
NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) rs16891982 0.67617
NM_000275.3(OCA2):c.2328T>C (p.Ala776=) rs1800419 0.47440
NM_002386.4(MC1R):c.488G>A (p.Arg163Gln) rs885479 0.08396
NM_002386.4(MC1R):c.178G>T (p.Val60Leu) rs1805005 0.08197
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) rs1800401 0.07659
NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter) rs41302073 0.01144
NM_002386.4(MC1R):c.586T>C (p.Phe196Leu) rs3212366 0.00938
NM_000275.3(OCA2):c.796C>T (p.Arg266Trp) rs33929465 0.00876
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr) rs1110400 0.00675
NM_001029896.2(WDR45):c.838G>A (p.Val280Met) rs149509552 0.00644
NM_002386.4(MC1R):c.466G>C (p.Val156Leu) rs3212365 0.00443
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000372.5(TYR):c.1366+4A>G rs61754398 0.00175
NM_000275.3(OCA2):c.*54A>G rs192734230 0.00144
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365 0.00143
NM_000372.5(TYR):c.665T>C (p.Ile222Thr) rs34878847 0.00096
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_002386.4(MC1R):c.537dup (p.Ile180fs) rs555179612 0.00067
NM_002386.4(MC1R):c.456C>A (p.Tyr152Ter) rs201326893 0.00056
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) rs143218168 0.00054
NM_000372.5(TYR):c.1509G>C (p.Lys503Asn) rs138750983 0.00052
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_002386.4(MC1R):c.112G>A (p.Val38Met) rs200050206 0.00040
NM_000372.5(TYR):c.1067A>T (p.Asp356Val) rs180801021 0.00037
NM_000550.3(TYRP1):c.1411C>T (p.Arg471Trp) rs138272660 0.00036
NM_016180.5(SLC45A2):c.1518C>T (p.Val506=) rs150473213 0.00034
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020 0.00031
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180 0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000550.3(TYRP1):c.208G>A (p.Ala70Thr) rs61752864 0.00027
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246 0.00025
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 0.00024
NM_002386.4(MC1R):c.200G>A (p.Arg67Gln) rs34090186 0.00024
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594 0.00023
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00023
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) rs376823382 0.00022
NM_000275.3(OCA2):c.1663C>T (p.Arg555Cys) rs141611162 0.00021
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_000550.3(TYRP1):c.1261+1G>A rs140365820 0.00021
NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter) rs104894130 0.00021
NM_002386.4(MC1R):c.332C>T (p.Ala111Val) rs201489928 0.00021
NM_016180.5(SLC45A2):c.365A>G (p.Asn122Ser) rs145379710 0.00021
NM_000275.3(OCA2):c.1160C>T (p.Thr387Met) rs150335311 0.00019
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys) rs138065338 0.00018
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797 0.00017
NM_000275.3(OCA2):c.1239+5G>C rs757119713 0.00016
NM_000275.3(OCA2):c.1182+1G>A rs371963034 0.00014
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317 0.00011
NM_002386.4(MC1R):c.577G>A (p.Val193Met) rs527673999 0.00011
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) rs200764804 0.00010
NM_002386.4(MC1R):c.803C>G (p.Pro268Arg) rs527697723 0.00010
NM_000372.5(TYR):c.325G>A (p.Gly109Arg) rs61753253 0.00009
NM_000275.3(OCA2):c.1503+5G>A rs368124046 0.00008
NM_000372.5(TYR):c.613C>A (p.Pro205Thr) rs61754362 0.00008
NM_002386.4(MC1R):c.766C>T (p.Pro256Ser) rs200215218 0.00008
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr) rs142988897 0.00006
NM_000275.3(OCA2):c.41C>T (p.Ala14Val) rs763734477 0.00006
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu) rs190612616 0.00006
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185 0.00006
NM_000372.5(TYR):c.48C>T (p.Ser16=) rs148710429 0.00006
NM_000372.5(TYR):c.892C>T (p.Arg298Trp) rs200854796 0.00006
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375 0.00006
NM_000550.3(TYRP1):c.1120C>T (p.Arg374Ter) rs121912778 0.00006
NM_000550.3(TYRP1):c.415G>A (p.Glu139Lys) rs201789348 0.00006
NM_000550.3(TYRP1):c.520G>T (p.Gly174Cys) rs78071458 0.00006
NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro) rs121912619 0.00006
NM_000275.3(OCA2):c.1261C>T (p.Arg421Trp) rs372899234 0.00005
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169 0.00005
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784 0.00004
NM_000275.3(OCA2):c.2338+1G>T rs770635415 0.00004
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227 0.00004
NM_000275.3(OCA2):c.941T>G (p.Val314Gly) rs762262964 0.00004
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916 0.00004
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln) rs281865424 0.00004
NM_000550.3(TYRP1):c.351G>A (p.Trp117Ter) rs780433845 0.00004
NM_016180.5(SLC45A2):c.1256C>T (p.Pro419Leu) rs530738094 0.00004
NM_016180.5(SLC45A2):c.1454T>C (p.Leu485Pro) rs749544685 0.00004
NM_016180.5(SLC45A2):c.301C>T (p.Arg101Cys) rs779436059 0.00004
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met) rs772019064 0.00003
NM_000275.3(OCA2):c.157del (p.Arg53fs) rs758894409 0.00003
NM_000275.3(OCA2):c.2086_2095del (p.Ala696fs) rs746307353 0.00003
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175 0.00003
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295 0.00003
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256 0.00003
NM_000372.5(TYR):c.875C>T (p.Thr292Met) rs61754372 0.00003
NM_000550.3(TYRP1):c.-70C>T rs766836831 0.00003
NM_002386.4(MC1R):c.104G>A (p.Cys35Tyr) rs779504604 0.00003
NM_002386.4(MC1R):c.219G>A (p.Met73Ile) rs755918287 0.00003
NM_016180.5(SLC45A2):c.1042C>T (p.Arg348Cys) rs372465070 0.00003
NM_016180.5(SLC45A2):c.1156+1G>C rs752501574 0.00003
NM_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu) rs769448704 0.00003
NM_016180.5(SLC45A2):c.802dup (p.Tyr268fs) rs753041550 0.00003
NM_016180.5(SLC45A2):c.957C>A (p.Tyr319Ter) rs200122644 0.00003
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu) rs745573222 0.00002
NM_000372.5(TYR):c.1037-1G>A rs61754382 0.00002
NM_000372.5(TYR):c.1037-2A>G rs748901196 0.00002
NM_000372.5(TYR):c.121G>A (p.Gly41Arg) rs369291837 0.00002
NM_000372.5(TYR):c.1366+1G>T rs369610829 0.00002
NM_000372.5(TYR):c.389A>T (p.Glu130Val) rs966882228 0.00002
NM_001029896.2(WDR45):c.254C>T (p.Ala85Val) rs41310595 0.00002
NM_002386.4(MC1R):c.217A>G (p.Met73Val) rs371458749 0.00002
NM_002386.4(MC1R):c.583T>G (p.Phe195Val) rs377580634 0.00002
NM_000275.3(OCA2):c.1080C>T (p.Ser360=) rs373775562 0.00001
NM_000275.3(OCA2):c.1178G>T (p.Gly393Val) rs749661379 0.00001
NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser) rs763819379 0.00001
NM_000275.3(OCA2):c.1660T>C (p.Trp554Arg) rs1384042381 0.00001
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg) rs768934658 0.00001
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr) rs776814755 0.00001
NM_000275.3(OCA2):c.807+1G>T rs763219039 0.00001
NM_000275.3(OCA2):c.868A>G (p.Arg290Gly) rs769408559 0.00001
NM_000275.3(OCA2):c.943C>T (p.Pro315Ser) rs201481836 0.00001
NM_000372.5(TYR):c.1036+1G>A rs763715899 0.00001
NM_000372.5(TYR):c.1099C>T (p.His367Tyr) rs776054795 0.00001
NM_000372.5(TYR):c.1106A>G (p.Tyr369Cys) rs149912348 0.00001
NM_000372.5(TYR):c.1110G>A (p.Met370Ile) rs1207709557 0.00001
NM_000372.5(TYR):c.1111A>T (p.Asn371Tyr) rs61754386 0.00001
NM_000372.5(TYR):c.1112A>C (p.Asn371Thr) rs61754387 0.00001
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser) rs104894316 0.00001
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392 0.00001
NM_000372.5(TYR):c.1343A>G (p.Asp448Gly) rs753195354 0.00001
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879 0.00001
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly) rs61753187 0.00001
NM_000372.5(TYR):c.290G>T (p.Gly97Val) rs1320376090 0.00001
NM_000372.5(TYR):c.606T>G (p.His202Gln) rs754661359 0.00001
NM_000372.5(TYR):c.61C>T (p.Pro21Ser) rs61753178 0.00001
NM_000372.5(TYR):c.626C>T (p.Pro209Leu) rs746581409 0.00001
NM_000372.5(TYR):c.635G>A (p.Arg212Lys) rs377209424 0.00001
NM_000372.5(TYR):c.649del (p.Arg217fs) rs61754364 0.00001
NM_000372.5(TYR):c.71G>A (p.Cys24Tyr) rs373333305 0.00001
NM_000372.5(TYR):c.880G>A (p.Glu294Lys) rs757754120 0.00001
NM_000550.3(TYRP1):c.1082G>C (p.Gly361Ala) rs372225049 0.00001
NM_002386.4(MC1R):c.313G>A (p.Ala105Thr) rs1376244060 0.00001
NM_016180.5(SLC45A2):c.1032G>T (p.Gln344His) rs794727645 0.00001
NM_016180.5(SLC45A2):c.1567G>A (p.Ala523Thr) rs371334000 0.00001
NM_016180.5(SLC45A2):c.1570C>T (p.Leu524Phe) rs565278457 0.00001
NM_016180.5(SLC45A2):c.274A>G (p.Ser92Gly) rs755311638 0.00001
NM_016180.5(SLC45A2):c.53A>T (p.Asp18Val) rs768464863 0.00001
NM_016180.5(SLC45A2):c.793A>T (p.Met265Leu) rs754221547 0.00001
NM_000275.3(OCA2):c.1056_1062del (p.Thr353fs) rs2041525028
NM_000275.3(OCA2):c.1086AGCACTGGC[1] (p.363ALA[1])
NM_000275.3(OCA2):c.1275_1277del (p.Met425del) rs752510351
NM_000275.3(OCA2):c.131del (p.Gly44fs) rs780625433
NM_000275.3(OCA2):c.1418T>A (p.Ile473Asn)
NM_000275.3(OCA2):c.1450_1451insCTGCCCTGACA (p.Ile484fs)
NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg) rs747214535
NM_000275.3(OCA2):c.1504-2A>G rs752460023
NM_000275.3(OCA2):c.1560_1562del (p.Leu521del)
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg) rs779850564
NM_000275.3(OCA2):c.1653dup (p.His552fs)
NM_000275.3(OCA2):c.1675C>T (p.Gln559Ter)
NM_000275.3(OCA2):c.1714C>T (p.Arg572Cys)
NM_000275.3(OCA2):c.1808del (p.Asn603fs) rs1476192724
NM_000275.3(OCA2):c.1841dup (p.His615fs)
NM_000275.3(OCA2):c.1842+2T>C rs1226502822
NM_000275.3(OCA2):c.1842_1842+2delinsAGGA
NM_000275.3(OCA2):c.1954T>A (p.Trp652Arg) rs886043514
NM_000275.3(OCA2):c.1A>G (p.Met1Val)
NM_000275.3(OCA2):c.1_7dup (p.Leu3fs)
NM_000275.3(OCA2):c.2051_2052delinsG (p.Phe684fs) rs1595660890
NM_000275.3(OCA2):c.2158C>T (p.Arg720Cys)
NM_000275.3(OCA2):c.2159G>A (p.Arg720His)
NM_000275.3(OCA2):c.2216T>C (p.Ile739Thr)
NM_000275.3(OCA2):c.2217dup (p.Asp740Ter)
NM_000275.3(OCA2):c.2244+2T>G
NM_000275.3(OCA2):c.2245-3_2245-2del
NM_000275.3(OCA2):c.2245-6C>G rs368772032
NM_000275.3(OCA2):c.224G>A (p.Gly75Glu) rs2141895899
NM_000275.3(OCA2):c.2251G>A (p.Val751Met)
NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp) rs987780496
NM_000275.3(OCA2):c.2432G>A (p.Arg811Lys)
NM_000275.3(OCA2):c.2479T>C (p.Tyr827His)
NM_000275.3(OCA2):c.2491G>C (p.Ala831Pro)
NM_000275.3(OCA2):c.316C>T (p.Gln106Ter)
NM_000275.3(OCA2):c.403G>T (p.Glu135Ter) rs959570803
NM_000275.3(OCA2):c.406C>T (p.Arg136Ter)
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000275.3(OCA2):c.631C>T (p.Pro211Ser)
NM_000275.3(OCA2):c.74_78del (p.Pro25fs) rs747408689
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000275.3(OCA2):c.849C>A (p.Ser283Arg) rs143320446
NM_000275.3(OCA2):c.949_950del (p.Leu317fs)
NM_000275.3(OCA2):c.950del (p.Leu316_Leu317insTer) rs747395624
NM_000275.3(OCA2):c.988C>T (p.Gln330Ter)
NM_000372.5(TYR):c.1036+13T>A rs1377064834
NM_000372.5(TYR):c.1037-3C>G
NM_000372.5(TYR):c.1146C>A (p.Asn382Lys) rs104894315
NM_000372.5(TYR):c.1164del (p.His389fs) rs281865522
NM_000372.5(TYR):c.1177del (p.Val393fs)
NM_000372.5(TYR):c.1185-2A>G rs1289685376
NM_000372.5(TYR):c.1200G>T (p.Trp400Cys)
NM_000372.5(TYR):c.1259A>G (p.His420Arg) rs2135324283
NM_000372.5(TYR):c.1322C>A (p.Ser441Ter)
NM_000372.5(TYR):c.133C>A (p.Pro45Thr)
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn) rs104894318
NM_000372.5(TYR):c.1392dup (p.Lys465Ter) rs1555100853
NM_000372.5(TYR):c.1405G>T (p.Glu469Ter)
NM_000372.5(TYR):c.1427_1430dup (p.Trp477fs)
NM_000372.5(TYR):c.1456del (p.Ala486fs) rs1590909462
NM_000372.5(TYR):c.149C>G (p.Ser50Ter) rs61753181
NM_000372.5(TYR):c.1501C>T (p.Arg501Cys)
NM_000372.5(TYR):c.1556_1557del (p.Glu519fs) rs765024056
NM_000372.5(TYR):c.16T>A (p.Leu6Met)
NM_000372.5(TYR):c.241C>T (p.Pro81Ser)
NM_000372.5(TYR):c.338_339del (p.Thr113fs) rs61753254
NM_000372.5(TYR):c.347G>A (p.Arg116Gln)
NM_000372.5(TYR):c.353T>A (p.Leu118Ter)
NM_000372.5(TYR):c.391_393del (p.Lys131del) rs1413017181
NM_000372.5(TYR):c.446A>G (p.Tyr149Cys) rs797046082
NM_000372.5(TYR):c.485G>A (p.Gly162Glu)
NM_000372.5(TYR):c.49G>A (p.Ala17Thr)
NM_000372.5(TYR):c.547G>A (p.Val183Met) rs141930049
NM_000372.5(TYR):c.549del (p.Ser184fs)
NM_000372.5(TYR):c.572del (p.Gly191fs) rs61754361
NM_000372.5(TYR):c.593T>C (p.Ile198Thr)
NM_000372.5(TYR):c.604C>T (p.His202Tyr) rs749096874
NM_000372.5(TYR):c.650G>C (p.Arg217Pro)
NM_000372.5(TYR):c.696del (p.Ile233fs)
NM_000372.5(TYR):c.731G>A (p.Cys244Tyr)
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer) rs61754368
NM_000372.5(TYR):c.755T>G (p.Met252Arg) rs1943262190
NM_000372.5(TYR):c.773_774del (p.Thr258fs) rs1374400414
NM_000372.5(TYR):c.820-2A>G
NM_000372.5(TYR):c.820-3C>G rs61754371
NM_000372.5(TYR):c.820-3del rs763374476
NM_000372.5(TYR):c.838G>T (p.Glu280Ter)
NM_000372.5(TYR):c.862_863del (p.Leu288fs) rs2135253151
NM_000372.5(TYR):c.867C>A (p.Cys289Ter)
NM_000372.5(TYR):c.895C>T (p.Arg299Cys) rs61754374
NM_000372.5(TYR):c.902C>G (p.Pro301Arg)
NM_000372.5(TYR):c.902C>T (p.Pro301Leu) rs796051880
NM_000372.5(TYR):c.929dup (p.Arg311fs) rs281865527
NM_000372.5(TYR):c.938_939dup (p.Ser314fs) rs867751958
NM_000372.5(TYR):c.994A>G (p.Met332Val)
NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs) rs387906562
NM_000550.3(TYRP1):c.1082-1G>C
NM_000550.3(TYRP1):c.1103del (p.Lys368fs) rs387906560
NM_000550.3(TYRP1):c.1167del (p.Gln390fs)
NM_000550.3(TYRP1):c.1372_1375dup (p.Asn459fs)
NM_000550.3(TYRP1):c.1377_1380dup (p.Gly461fs)
NM_000550.3(TYRP1):c.1415_1418dup (p.Phe473fs)
NM_000550.3(TYRP1):c.176C>G (p.Ser59Ter)
NM_000550.3(TYRP1):c.570G>A (p.Trp190Ter)
NM_000550.3(TYRP1):c.782_793del (p.Cys261_Asp264del)
NM_000550.3(TYRP1):c.88T>C (p.Cys30Arg)
NM_002386.4(MC1R):c.201del (p.Asn68fs)
NM_002386.4(MC1R):c.259G>C (p.Val87Leu)
NM_002386.4(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002386.4(MC1R):c.377G>C (p.Ser126Thr)
NM_002386.4(MC1R):c.506G>A (p.Trp169Ter)
NM_002386.4(MC1R):c.795C>G (p.Val265=) rs367998996
NM_016180.5(SLC45A2):c.1036G>T (p.Val346Leu)
NM_016180.5(SLC45A2):c.1072_1081del (p.Thr358fs)
NM_016180.5(SLC45A2):c.1076_1077del (p.Glu359fs) rs753485165
NM_016180.5(SLC45A2):c.1166_1167del (p.Lys389fs) rs896495198
NM_016180.5(SLC45A2):c.1194G>C (p.Lys398Asn)
NM_016180.5(SLC45A2):c.1273del (p.Leu425fs) rs759411189
NM_016180.5(SLC45A2):c.1316A>C (p.Tyr439Ser)
NM_016180.5(SLC45A2):c.1456G>A (p.Ala486Thr)
NM_016180.5(SLC45A2):c.1534_1539dup (p.Ser512_Ala513dup) rs752069774
NM_016180.5(SLC45A2):c.2T>C (p.Met1Thr)
NM_016180.5(SLC45A2):c.339_340insAC (p.Leu114fs)
NM_016180.5(SLC45A2):c.529_531del (p.Glu177del) rs779024478
NM_016180.5(SLC45A2):c.834C>G (p.Tyr278Ter) rs116887602
NM_016180.5(SLC45A2):c.875del (p.Asn292fs)
NM_016180.5(SLC45A2):c.941C>T (p.Pro314Leu)

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