ClinVar Miner

List of variants reported as likely pathogenic for Kleefstra syndrome 1 by Invitae

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NC_000009.11:g.(?_140605399)_(140652483_?)dup
NC_000009.11:g.(?_140605409)_(140605492_?)dup
NC_000009.11:g.(?_140657107)_(140685442_?)dup
NC_000009.12:g.(?_137743351)_(137744110_?)dup
NC_000009.12:g.(?_137790828)_(137790990_?)del
NC_000009.12:g.(?_137790828)_(137818158_?)del
NM_024757.5(EHMT1):c.1170+2T>C
NM_024757.5(EHMT1):c.1370-1G>C
NM_024757.5(EHMT1):c.13_21+153del rs1564509503
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332
NM_024757.5(EHMT1):c.3259-1G>A rs1554897763
NM_024757.5(EHMT1):c.3313T>C (p.Cys1105Arg)
NM_024757.5(EHMT1):c.50_85+60del rs2135388757
NM_024757.5(EHMT1):c.643-1G>A

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