ClinVar Miner

List of variants studied for Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature by OMIM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_019042.5(PUS7):c.1160C>T (p.Thr387Met) rs916775904 0.00001
NM_019042.5(PUS7):c.1348C>T (p.Arg450Ter) rs772282094 0.00001
NM_019042.4(PUS7):c.(1757+1_1758-1)_(1848+1_1849-1)del
NM_019042.5(PUS7):c.1507G>T (p.Asp503Tyr) rs1444559235
NM_019042.5(PUS7):c.329_332del (p.Thr110fs) rs1562818383
NM_019042.5(PUS7):c.398+1G>T rs1264890888
NM_019042.5(PUS7):c.89_90del (p.Thr30fs) rs752839979

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