ClinVar Miner

List of variants in gene MNX1 studied for bone development disease

Included ClinVar conditions (618):
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Gene type:
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Total variants: 31
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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.691+10C>G rs201139239 0.00115
NM_005515.4(MNX1):c.126A>G (p.Gly42=) rs536068265 0.00093
NM_005515.4(MNX1):c.528G>A (p.Ala176=) rs752182988 0.00010
NM_005515.4(MNX1):c.853-4G>T rs751247773 0.00005
NM_005515.4(MNX1):c.1193C>T (p.Pro398Leu) rs548959409 0.00001
NM_005515.4(MNX1):c.692-18C>T rs775967115 0.00001
NM_005515.4(MNX1):c.956G>A (p.Gly319Asp) rs758672581 0.00001
MNX1, 24-BP DEL/2-BP INS, NT577
NM_005515.4(MNX1):c.1055G>C (p.Arg352Thr)
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.1136C>T (p.Ala379Val)
NM_005515.4(MNX1):c.132CGG[8] (p.Gly47_Gly49dup) rs781217883
NM_005515.4(MNX1):c.145G>A (p.Gly49Arg)
NM_005515.4(MNX1):c.298GGC[5] (p.Gly105del) rs757330807
NM_005515.4(MNX1):c.340del (p.His114fs)
NM_005515.4(MNX1):c.355C>A (p.Pro119Thr)
NM_005515.4(MNX1):c.53dup (p.Arg19fs) rs1554594329
NM_005515.4(MNX1):c.562C>T (p.Gln188Ter) rs2134846165
NM_005515.4(MNX1):c.570del (p.Gly191fs)
NM_005515.4(MNX1):c.736A>T (p.Thr246Ser) rs121912548
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.844G>T (p.Glu282Ter) rs121912549
NM_005515.4(MNX1):c.852+1G>A rs1563700419
NM_005515.4(MNX1):c.852G>A (p.Gln284=)
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

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