ClinVar Miner

List of variants studied for developmental defect during embryogenesis by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (2031):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 200
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_005006.7(NDUFS1):c.-5+236T>C rs184505364 0.00195
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089 0.00023
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_000093.5(COL5A1):c.2700+191C>T rs183885286 0.00011
NM_004826.4(ECEL1):c.1470G>A (p.Trp490Ter) rs149459910 0.00011
NM_052867.4(NALCN):c.883C>T (p.Arg295Cys) rs372035044 0.00009
NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met) rs1127511 0.00008
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) rs141310608 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_006907.4(PYCR1):c.866A>G (p.Lys289Arg) rs34575645 0.00005
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_032040.5(CCDC8):c.963del (p.Ala323fs) rs746873023 0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000308.4(CTSA):c.601-2A>G rs778159802 0.00003
NM_001360.3(DHCR7):c.289G>A (p.Ala97Thr) rs150563256 0.00003
NM_001365999.1(SZT2):c.2929+15C>T rs1030508390 0.00003
NM_138425.4(C12orf57):c.1A>G (p.Met1Val) rs587776954 0.00003
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys) rs398123151 0.00002
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243 0.00002
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354 0.00002
NM_001286577.2(C2CD3):c.4658G>A (p.Arg1553Gln) rs542660333 0.00002
NM_004204.5(PIGQ):c.619C>T (p.Arg207Ter) rs730882240 0.00002
NM_017909.4(RMND1):c.920A>G (p.Asn307Ser) rs746632175 0.00002
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236 0.00002
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533 0.00001
NM_000108.5(DLD):c.684+1G>T rs780025714 0.00001
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) rs786205673 0.00001
NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter) rs200659479 0.00001
NM_001985.3(ETFB):c.58-57C>T rs766066977 0.00001
NM_002496.4(NDUFS8):c.460G>A (p.Gly154Ser) rs143337739 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890 0.00001
NM_005585.5(SMAD6):c.1024C>T (p.Arg342Cys) rs1333091798 0.00001
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter) rs766629205 0.00001
NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter) rs764260054 0.00001
NM_012330.4(KAT6B):c.5675C>T (p.Pro1892Leu) rs1037774698 0.00001
NM_014780.5(CUL7):c.1144C>T (p.Arg382Ter) rs1023630527 0.00001
NM_025074.7(FRAS1):c.7084C>T (p.Arg2362Ter) rs777438557 0.00001
NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu) rs764053964 0.00001
NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter) rs774005569 0.00001
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp) rs548129734 0.00001
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) rs765711776
NM_000059.4(BRCA2):c.4787del (p.Asn1596fs) rs1593903422
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000071.3(CBS):c.969G>A (p.Trp323Ter) rs863223432
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter) rs2068606445
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000126.4(ETFA):c.7C>T (p.Arg3Ter) rs1475984278
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.511G>T (p.Val171Leu) rs1602226867
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000512.5(GALNS):c.423-862C>T rs1597575641
NM_000553.6(WRN):c.1822C>T (p.Gln608Ter) rs1813725009
NM_000965.5(RARB):c.1180G>T (p.Glu394Ter) rs1575553528
NM_001032386.2(SUOX):c.520del (p.Asp174fs) rs1565798380
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.2998_2999del (p.Arg1000fs) rs1597716817
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042545.2(LTBP4):c.3850dup (p.Cys1284fs) rs1599879104
NM_001080517.3(SETD5):c.1452dup (p.Pro485fs) rs1575453353
NM_001081550.2(THOC2):c.133T>A (p.Phe45Ile) rs1569441509
NM_001083962.2(TCF4):c.748C>T (p.Gln250Ter) rs727504175
NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter) rs1591672193
NM_001101.5(ACTB):c.209C>A (p.Pro70His) rs587779769
NM_001135146.2(SLC39A8):c.915G>C (p.Trp305Cys) rs1578557666
NM_001191061.2(SLC25A22):c.754C>T (p.Arg252Trp) rs1388811021
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter) rs747536886
NM_001282531.3(ADNP):c.1265dup (p.Gln423fs) rs1600932676
NM_001282531.3(ADNP):c.2157del (p.Thr718_Tyr719insTer) rs1600930164
NM_001286577.2(C2CD3):c.195G>C (p.Trp65Cys) rs1590991247
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys) rs61752138
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001367721.1(CASK):c.2342_2343del (p.Asp781fs) rs1569288603
NM_001371623.1(TCOF1):c.4221dup (p.Ser1408fs) rs1561540623
NM_001371986.1(UNC80):c.409C>T (p.Arg137Ter) rs1289499829
NM_001374828.1(ARID1B):c.2107C>T (p.Gln703Ter) rs1554265316
NM_001374828.1(ARID1B):c.3287del (p.Leu1096fs) rs1583451146
NM_001374828.1(ARID1B):c.4342C>T (p.Gln1448Ter) rs1554234402
NM_001374828.1(ARID1B):c.5224del (p.Val1742fs) rs1583502875
NM_001374828.1(ARID1B):c.5851G>T (p.Glu1951Ter) rs1451259945
NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter) rs797045283
NM_001375380.1(EBF3):c.412-2A>T rs1859264278
NM_001375380.1(EBF3):c.428G>A (p.Gly143Asp) rs1589962586
NM_001377299.1(NDUFS2):c.703-11T>G rs770054202
NM_001378183.1(PIEZO2):c.4244_4245del (p.Thr1415fs) rs1598431052
NM_001378183.1(PIEZO2):c.6055C>T (p.Arg2019Ter) rs764171255
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_001904.4(CTNNB1):c.998dup (p.Tyr333Ter) rs886041281
NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter) rs765023287
NM_001982.4(ERBB3):c.3425C>T (p.Pro1142Leu) rs1592232580
NM_002437.5(MPV17):c.278A>C (p.Gln93Pro) rs200938111
NM_002465.4(MYBPC1):c.3224G>A (p.Cys1075Tyr) rs1566012539
NM_002470.4(MYH3):c.4405dup (p.Glu1469fs) rs1597482824
NM_002547.3(OPHN1):c.1105-13_1109del rs2077502210
NM_002641.4(PIGA):c.1234C>T (p.Arg412Ter) rs387906726
NM_002641.4(PIGA):c.166C>G (p.Leu56Val) rs1602212318
NM_002693.3(POLG):c.925C>T (p.Arg309Cys) rs886041592
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002880.4(RAF1):c.659_660del (p.Ser220fs) rs1575577384
NM_003070.5(SMARCA2):c.1553T>C (p.Ile518Thr) rs1820558146
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_004187.5(KDM5C):c.2114G>A (p.Arg705His) rs1569264240
NM_004214.5(FIBP):c.412-11C>G rs1591078042
NM_004380.3(CREBBP):c.7311G>T (p.Lys2437Asn) rs895608889
NM_004423.4(DVL3):c.1715-1G>C rs869025217
NM_004553.6(NDUFS6):c.80G>A (p.Cys27Tyr) rs1579936916
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly) rs759314410
NM_004793.4(LONP1):c.889G>A (p.Val297Met) rs1599470758
NM_004959.5(NR5A1):c.455_536del (p.Leu152fs) rs1588621944
NM_005006.7(NDUFS1):c.2121G>A (p.Met707Ile) rs1321888585
NM_005138.3(SCO2):c.2T>C (p.Met1Thr) rs1603441682
NM_005199.5(CHRNG):c.1366_1367del (p.His457fs) rs1309599304
NM_005522.5(HOXA1):c.175dup (p.Val59fs) rs769152039
NM_005633.4(SOS1):c.2316G>C (p.Glu772Asp) rs1176763588
NM_005732.4(RAD50):c.452_453dup (p.Asn152Ter) rs1561635887
NM_005993.5(TBCD):c.1661C>T (p.Ala554Val) rs1555641324
NM_005993.5(TBCD):c.1712A>G (p.Lys571Arg) rs758413695
NM_006015.6(ARID1A):c.1113G>A (p.Gly371=) rs1485078108
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006766.5(KAT6A):c.2218del (p.Arg740fs) rs1587723169
NM_006767.4(LZTR1):c.1585T>C (p.Tyr529His) rs767374538
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_013275.6(ANKRD11):c.2609_2612dup (p.Asp871fs) rs1597459998
NM_013275.6(ANKRD11):c.5437C>T (p.Gln1813Ter) rs2034195603
NM_013352.4(DSE):c.1568G>A (p.Gly523Glu) rs1562313702
NM_014141.6(CNTNAP2):c.2099-79071A>G rs1584975264
NM_014754.3(PTDSS1):c.932T>G (p.Phe311Cys) rs1586200380
NM_014780.5(CUL7):c.2988G>A (p.Trp996Ter) rs1581930130
NM_014795.4(ZEB2):c.3114C>G (p.His1038Gln) rs1573708173
NM_014875.3(KIF14):c.1514T>C (p.Leu505Pro) rs1660016633
NM_015100.4(POGZ):c.2188_2190delinsAAA (p.Tyr730Lys) rs1571340611
NM_015340.4(LARS2):c.457A>C (p.Asn153His) rs786205560
NM_015375.3(DSTYK):c.2605G>T (p.Ala869Ser) rs1574742379
NM_015425.6(POLR1A):c.253C>T (p.Leu85Phe) rs1558788291
NM_015443.4(KANSL1):c.2902C>T (p.Gln968Ter) rs2077030838
NM_015697.9(COQ2):c.16C>A (p.Gln6Lys) rs752575160
NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu) rs1602937895
NM_017780.4(CHD7):c.6734del (p.Leu2245fs) rs1563661595
NM_017780.4(CHD7):c.8743G>A (p.Gly2915Arg) rs1586468892
NM_017946.4(FKBP14):c.197+5_197+8del rs747353360
NM_018127.7(ELAC2):c.1299G>T (p.Trp433Cys) rs1598224070
NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu) rs397515465
NM_018238.4(AGK):c.72G>A (p.Trp24Ter) rs1587053244
NM_018486.3(HDAC8):c.859T>C (p.Cys287Arg) rs1602975122
NM_018838.5(NDUFA12):c.4G>T (p.Glu2Ter) rs1411237396
NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter) rs1555374290
NM_019074.4(DLL4):c.1392C>A (p.Cys464Ter) rs1596194950
NM_020247.5(COQ8A):c.1744dup (p.Ser582fs) rs1553281318
NM_020247.5(COQ8A):c.1867_1869dup (p.Leu623dup) rs1558212011
NM_020312.4(COQ9):c.184C>T (p.His62Tyr) rs757251412
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met) rs754097561
NM_020964.3(EPG5):c.1640C>T (p.Ser547Phe) rs1599633287
NM_022455.5(NSD1):c.6026C>T (p.Ala2009Val) rs1581535417
NM_022552.5(DNMT3A):c.137G>A (p.Arg46Gln) rs1573454800
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln) rs1040187200
NM_024339.5(THOC6):c.837C>A (p.Cys279Ter) rs146682486
NM_025074.7(FRAS1):c.1226dup (p.Gln411fs) rs1727403682
NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter) rs1292516576
NM_030653.4(DDX11):c.2576T>G (p.Val859Gly) rs1565941025
NM_030665.4(RAI1):c.2238G>A (p.Trp746Ter) rs1598089943
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230
NM_032620.4(GTPBP3):c.1439T>A (p.Ile480Asn) rs558425417
NM_032861.4(SERAC1):c.438del (p.Thr147fs) rs1583595091
NM_033337.3(CAV3):c.302G>T (p.Trp101Leu) rs1575477812
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr) rs759541820
NM_052859.4(RFT1):c.749C>T (p.Ser250Phe) rs1575494329
NM_052867.4(NALCN):c.2831dup (p.Thr945fs) rs1594211244
NM_052867.4(NALCN):c.3533T>C (p.Leu1178Pro) rs1594168705
NM_078480.3(PUF60):c.931del (p.Thr311fs) rs1586565506
NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter) rs763706988
NM_130468.4(CHST14):c.436C>G (p.Arg146Gly) rs1007569346
NM_133259.4(LRPPRC):c.1177T>C (p.Tyr393His) rs863224054
NM_133259.4(LRPPRC):c.1177T>G (p.Tyr393Asp) rs863224054
NM_133433.4(NIPBL):c.4173_4174del (p.Cys1391_Asp1392delinsTer) rs1747566758
NM_138425.4(C12orf57):c.53-2A>G rs1114167293
NM_139284.3(LGI4):c.834del (p.Ser279fs) rs1600470099
NM_152281.3(GORAB):c.231dup (p.Pro78fs) rs1571243797
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_153816.6(SNX14):c.1725del (p.Phe575fs) rs1311909367
NM_153816.6(SNX14):c.1809A>G (p.Ala603=) rs1582696313
NM_174916.3(UBR1):c.1440-1G>A rs1596118528
NM_178012.5(TUBB2B):c.4C>A (p.Arg2Ser) rs1581526962
NM_181458.4(PAX3):c.*3G>C rs1574618272
NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg) rs1064793391
NM_182895.5(SCARF2):c.25del (p.Ala9fs) rs1215759021
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) rs730882246
NM_203475.3(PORCN):c.329+1G>A rs1602070594

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