ClinVar Miner

List of variants reported as pathogenic for Currarino triad

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP gnomAD frequency
MNX1, 24-BP DEL/2-BP INS, NT577
NM_005515.4(MNX1):c.340del (p.His114fs)
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.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.844G>T (p.Glu282Ter) rs121912549
NM_005515.4(MNX1):c.852+1G>A rs1563700419
NM_005515.4(MNX1):c.853-2A>G rs1563700090
NM_005515.4(MNX1):c.863G>A (p.Trp288Ter) rs2134838783

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