ClinVar Miner

List of variants studied for Currarino triad

Included ClinVar conditions (1):
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Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_005515.4(MNX1):c.234G>A (p.Pro78=) rs867731047 0.00330
NM_005515.4(MNX1):c.372T>C (p.Ala124=) rs867470183 0.00325
NM_005515.4(MNX1):c.402T>C (p.Ala134=) rs1241330496 0.00028
NM_005515.4(MNX1):c.691+10C>G rs201139239 0.00022
NM_005515.4(MNX1):c.445G>A (p.Gly149Ser) rs1333052902 0.00019
NM_005515.4(MNX1):c.528G>A (p.Ala176=) rs752182988 0.00017
NM_005515.4(MNX1):c.126A>G (p.Gly42=) rs536068265 0.00016
NM_005515.4(MNX1):c.483C>T (p.His161=) rs1171559580 0.00016
NM_005515.4(MNX1):c.164G>C (p.Ser55Thr) rs866277517 0.00006
NM_005515.4(MNX1):c.509C>G (p.Ala170Gly) rs746725337 0.00006
NM_005515.4(MNX1):c.1193C>T (p.Pro398Leu) rs548959409 0.00005
NM_005515.4(MNX1):c.853-4G>T rs751247773 0.00005
NM_005515.4(MNX1):c.1136C>T (p.Ala379Val) rs780826565 0.00003
NM_005515.4(MNX1):c.274C>T (p.Pro92Ser) rs1311353245 0.00003
NM_005515.4(MNX1):c.1059C>A (p.Asp353Glu) rs756772840 0.00002
NM_005515.4(MNX1):c.1192C>T (p.Pro398Ser) rs1384670116 0.00002
NM_005515.4(MNX1):c.676A>G (p.Met226Val) rs889871814 0.00002
NM_005515.4(MNX1):c.1048G>A (p.Asp350Asn) rs1292330977 0.00001
NM_005515.4(MNX1):c.1168C>G (p.Pro390Ala) rs760934530 0.00001
NM_005515.4(MNX1):c.124G>C (p.Gly42Arg) rs1249063712 0.00001
NM_005515.4(MNX1):c.145G>A (p.Gly49Arg) rs1472400448 0.00001
NM_005515.4(MNX1):c.689A>G (p.Asn230Ser) rs765767987 0.00001
NM_005515.4(MNX1):c.692-18C>T rs775967115 0.00001
NM_005515.4(MNX1):c.870G>A (p.Gln290=) rs774179857 0.00001
NM_005515.4(MNX1):c.956G>A (p.Gly319Asp) rs758672581 0.00001
MNX1, 24-BP DEL/2-BP INS, NT577
NC_000003.12:g.177772523_185716872dup
NM_005515.4(MNX1):c.102CGC[5] (p.Ala38_Ser39insAla)
NM_005515.4(MNX1):c.1055G>C (p.Arg352Thr) rs988657656
NM_005515.4(MNX1):c.1074GGACGA[2] (p.358ED[2]) rs763608839
NM_005515.4(MNX1):c.1081GACGAGGAC[1] (p.361DED[1]) rs762400153
NM_005515.4(MNX1):c.1105C>A (p.Pro369Thr)
NM_005515.4(MNX1):c.1124G>C (p.Ser375Thr)
NM_005515.4(MNX1):c.1166C>T (p.Ser389Leu) rs200578176
NM_005515.4(MNX1):c.1171C>A (p.Pro391Thr) rs767605620
NM_005515.4(MNX1):c.1175C>A (p.Pro392Gln)
NM_005515.4(MNX1):c.1175C>T (p.Pro392Leu)
NM_005515.4(MNX1):c.1177C>G (p.Arg393Gly)
NM_005515.4(MNX1):c.1198C>T (p.Pro400Ser)
NM_005515.4(MNX1):c.132CGG[6] (p.Gly49_Ala50insGly) rs781217883
NM_005515.4(MNX1):c.132CGG[7] (p.Gly49_Ala50insGlyGly) rs781217883
NM_005515.4(MNX1):c.132CGG[8] (p.Gly47_Gly49dup) rs781217883
NM_005515.4(MNX1):c.14A>G (p.Lys5Arg)
NM_005515.4(MNX1):c.155G>A (p.Gly52Asp)
NM_005515.4(MNX1):c.158G>A (p.Gly53Glu) rs1805688499
NM_005515.4(MNX1):c.196C>T (p.Pro66Ser)
NM_005515.4(MNX1):c.205C>T (p.Pro69Ser)
NM_005515.4(MNX1):c.224C>T (p.Ala75Val) rs1338839358
NM_005515.4(MNX1):c.226G>T (p.Glu76Ter)
NM_005515.4(MNX1):c.247_259dup (p.His87fs)
NM_005515.4(MNX1):c.269T>C (p.Leu90Pro)
NM_005515.4(MNX1):c.298GGC[5] (p.Gly105del) rs757330807
NM_005515.4(MNX1):c.298GGC[7] (p.Gly105dup) rs757330807
NM_005515.4(MNX1):c.305G>C (p.Gly102Ala)
NM_005515.4(MNX1):c.331G>C (p.Gly111Arg)
NM_005515.4(MNX1):c.340del (p.His114fs) rs2537781329
NM_005515.4(MNX1):c.355C>A (p.Pro119Thr) rs1456554355
NM_005515.4(MNX1):c.359G>T (p.Gly120Val)
NM_005515.4(MNX1):c.375CGC[16] (p.Ala128_Ala134dup) rs548755417
NM_005515.4(MNX1):c.375CGC[4] (p.Ala130_Ala134del)
NM_005515.4(MNX1):c.375CGC[6] (p.Ala132_Ala134del) rs548755417
NM_005515.4(MNX1):c.377_378insTGCCGCCGCCGCCGC (p.Ala134_Gly135insAlaAlaAlaAlaAla)
NM_005515.4(MNX1):c.402delinsCGCCGCCGCCGCC (p.Ala134_Gly135insAlaAlaAlaAla)
NM_005515.4(MNX1):c.403_404insCCGCCG (p.Ala133_Ala134dup) rs1290429302
NM_005515.4(MNX1):c.428C>G (p.Pro143Arg)
NM_005515.4(MNX1):c.44T>C (p.Val15Ala)
NM_005515.4(MNX1):c.458C>T (p.Pro153Leu)
NM_005515.4(MNX1):c.478G>A (p.Gly160Ser)
NM_005515.4(MNX1):c.488_494dup (p.Tyr166fs) rs2134846330
NM_005515.4(MNX1):c.492C>A (p.Tyr164Ter) rs121912547
NM_005515.4(MNX1):c.504GGC[6] (p.Ala174dup) rs748208450
NM_005515.4(MNX1):c.520G>T (p.Ala174Ser)
NM_005515.4(MNX1):c.528G>T (p.Ala176=)
NM_005515.4(MNX1):c.529G>T (p.Gly177Cys) rs778434757
NM_005515.4(MNX1):c.53dup (p.Arg19fs) rs1554594329
NM_005515.4(MNX1):c.558C>G (p.Tyr186Ter)
NM_005515.4(MNX1):c.562C>T (p.Gln188Ter) rs2134846165
NM_005515.4(MNX1):c.570del (p.Gly191fs) rs2537780168
NM_005515.4(MNX1):c.574G>A (p.Ala192Thr)
NM_005515.4(MNX1):c.580C>T (p.Pro194Ser)
NM_005515.4(MNX1):c.619A>G (p.Thr207Ala)
NM_005515.4(MNX1):c.625C>T (p.Gln209Ter)
NM_005515.4(MNX1):c.634C>T (p.Gln212Ter)
NM_005515.4(MNX1):c.655G>A (p.Ala219Thr)
NM_005515.4(MNX1):c.656C>G (p.Ala219Gly)
NM_005515.4(MNX1):c.662T>A (p.Met221Lys)
NM_005515.4(MNX1):c.675G>C (p.Lys225Asn)
NM_005515.4(MNX1):c.70C>T (p.Gln24Ter)
NM_005515.4(MNX1):c.721T>G (p.Cys241Gly)
NM_005515.4(MNX1):c.728G>A (p.Arg243Gln)
NM_005515.4(MNX1):c.736A>T (p.Thr246Ser) rs121912548
NM_005515.4(MNX1):c.76G>C (p.Ala26Pro)
NM_005515.4(MNX1):c.775C>T (p.Gln259Ter) rs121912546
NM_005515.4(MNX1):c.808A>C (p.Lys270Gln) rs1191651587
NM_005515.4(MNX1):c.820G>A (p.Val274Met)
NM_005515.4(MNX1):c.844G>T (p.Glu282Ter) rs121912549
NM_005515.4(MNX1):c.852+1G>A rs1563700419
NM_005515.4(MNX1):c.852G>A (p.Gln284=) rs2537773764
NM_005515.4(MNX1):c.853-2A>G rs1563700090
NM_005515.4(MNX1):c.863G>A (p.Trp288Ter) rs2134838783
NM_005515.4(MNX1):c.869A>G (p.Gln290Arg) rs2134838779
NM_005515.4(MNX1):c.904G>C (p.Ala302Pro)
NM_005515.4(MNX1):c.950_973del (p.Gly317_Gly324del)
NM_005515.4(MNX1):c.973G>T (p.Ala325Ser)
NM_005515.4(MNX1):c.980A>G (p.Glu327Gly)
NM_005515.4(MNX1):c.983C>G (p.Pro328Arg)

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