ClinVar Miner

List of variants studied for intellectual developmental disorder, autosomal dominant 64 by Revvity Omics, Revvity

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_015021.3(ZNF292):c.5149G>A (p.Ala1717Thr) rs994857907 0.00003
NM_015021.3(ZNF292):c.7900A>G (p.Thr2634Ala) rs566434477 0.00003
NM_015021.3(ZNF292):c.3761A>G (p.Asn1254Ser) rs548029828 0.00001
NM_015021.3(ZNF292):c.4006C>G (p.Gln1336Glu) rs1317931779 0.00001
NM_015021.3(ZNF292):c.3736C>G (p.Leu1246Val) rs1562186002
NM_015021.3(ZNF292):c.3903T>G (p.Ile1301Met) rs866475029
NM_015021.3(ZNF292):c.4471A>G (p.Lys1491Glu) rs1377675546
NM_015021.3(ZNF292):c.4594A>G (p.Thr1532Ala) rs1331891197
NM_015021.3(ZNF292):c.505A>C (p.Ile169Leu) rs746738863
NM_015021.3(ZNF292):c.5218_5220delinsGTG (p.Ile1740Val) rs2482339211
NM_015021.3(ZNF292):c.5492C>T (p.Ser1831Leu) rs2482343823
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs) rs1301328139
NM_015021.3(ZNF292):c.6905T>C (p.Met2302Thr) rs201064332
NM_015021.3(ZNF292):c.7065G>T (p.Lys2355Asn) rs577745065

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