ClinVar Miner

List of variants reported as uncertain significance for Cornelia de Lange syndrome 5 by Invitae

Included ClinVar conditions (1):
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_018486.3(HDAC8):c.198G>T (p.Glu66Asp) rs373199509 0.00002
NM_018486.3(HDAC8):c.835A>G (p.Met279Val) rs1555993170 0.00001
NM_018486.3(HDAC8):c.1005+5G>A
NM_018486.3(HDAC8):c.104C>T (p.Pro35Leu) rs782296225
NM_018486.3(HDAC8):c.1085T>C (p.Ile362Thr)
NM_018486.3(HDAC8):c.111+6G>A
NM_018486.3(HDAC8):c.1111G>A (p.Gly371Arg)
NM_018486.3(HDAC8):c.1112-2A>G rs1131690790
NM_018486.3(HDAC8):c.1117C>A (p.Leu373Met)
NM_018486.3(HDAC8):c.111G>C (p.Arg37=)
NM_018486.3(HDAC8):c.1126G>A (p.Val376Met)
NM_018486.3(HDAC8):c.164+4del rs2147614572
NM_018486.3(HDAC8):c.23C>A (p.Ala8Glu)
NM_018486.3(HDAC8):c.291G>A (p.Gly97=)
NM_018486.3(HDAC8):c.29G>A (p.Ser10Asn) rs2147618964
NM_018486.3(HDAC8):c.310G>A (p.Ala104Thr)
NM_018486.3(HDAC8):c.31G>C (p.Gly11Arg)
NM_018486.3(HDAC8):c.349G>A (p.Gly117Arg)
NM_018486.3(HDAC8):c.383A>T (p.Asp128Val)
NM_018486.3(HDAC8):c.43G>A (p.Val15Ile)
NM_018486.3(HDAC8):c.440A>T (p.Asp147Val)
NM_018486.3(HDAC8):c.500G>A (p.Arg167Gln)
NM_018486.3(HDAC8):c.502A>G (p.Lys168Glu) rs2148144312
NM_018486.3(HDAC8):c.587T>C (p.Met196Thr)
NM_018486.3(HDAC8):c.590C>A (p.Thr197Asn)
NM_018486.3(HDAC8):c.640G>A (p.Val214Met)
NM_018486.3(HDAC8):c.667C>T (p.Arg223Trp) rs1556007534
NM_018486.3(HDAC8):c.683A>T (p.Asn228Ile) rs2148124551
NM_018486.3(HDAC8):c.68A>C (p.Glu23Ala) rs2147618656
NM_018486.3(HDAC8):c.717A>T (p.Lys239Asn)
NM_018486.3(HDAC8):c.731G>A (p.Cys244Tyr)
NM_018486.3(HDAC8):c.737+3A>G
NM_018486.3(HDAC8):c.737+6G>A
NM_018486.3(HDAC8):c.822G>A (p.Met274Ile)
NM_018486.3(HDAC8):c.831T>A (p.Phe277Leu)
NM_018486.3(HDAC8):c.889G>C (p.Ala297Pro)
NM_018486.3(HDAC8):c.898A>C (p.Ile300Leu)
NM_018486.3(HDAC8):c.914G>A (p.Gly305Asp) rs2148039310
NM_018486.3(HDAC8):c.925G>T (p.Ala309Ser)
NM_018486.3(HDAC8):c.976A>G (p.Thr326Ala)

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