ClinVar Miner

List of variants reported for Currarino triad by Fulgent Genetics, Fulgent Genetics

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Total variants: 21
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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.402T>C (p.Ala134=) rs1241330496 0.00027
NM_005515.4(MNX1):c.445G>A (p.Gly149Ser) rs1333052902 0.00019
NM_005515.4(MNX1):c.483C>T (p.His161=) rs1171559580 0.00016
NM_005515.4(MNX1):c.528G>A (p.Ala176=) rs752182988 0.00010
NM_005515.4(MNX1):c.509C>G (p.Ala170Gly) rs746725337 0.00006
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
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.132CGG[8] (p.Gly47_Gly49dup) rs781217883
NM_005515.4(MNX1):c.298GGC[5] (p.Gly105del) rs757330807
NM_005515.4(MNX1):c.375CGC[16] (p.Ala128_Ala134dup) rs548755417
NM_005515.4(MNX1):c.375CGC[6] (p.Ala132_Ala134del) rs548755417
NM_005515.4(MNX1):c.504GGC[6] (p.Ala174dup) rs748208450
NM_005515.4(MNX1):c.808A>C (p.Lys270Gln) rs1191651587

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