ClinVar Miner

List of variants reported as likely pathogenic for Intellectual disability; Neurodevelopmental delay

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_032656.4(DHX37):c.278G>A (p.Arg93Gln) rs575837056 0.00004
NM_024072.4(DDX54):c.1832G>A (p.Arg611Gln) rs777276705 0.00002
NM_024072.4(DDX54):c.58T>A (p.Trp20Arg) rs774035439 0.00001
NM_032656.4(DHX37):c.3281C>T (p.Thr1094Met) rs1277857720 0.00001
NM_003587.5(DHX16):c.1280G>A (p.Gly427Glu) rs1582953009
NM_014284.3(NCDN):c.1492T>C (p.Trp498Arg) rs2148539394
NM_032656.4(DHX37):c.1257C>A (p.Asn419Lys) rs1060499737
NM_032656.4(DHX37):c.499_500inv (p.Glu167Ser)

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