ClinVar Miner

List of variants reported as uncertain significance for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_001429.4(EP300):c.1540A>G (p.Met514Val) rs765266179
NM_001429.4(EP300):c.1541T>C (p.Met514Thr)
NM_001429.4(EP300):c.1627A>G (p.Met543Val) rs142823793
NM_001429.4(EP300):c.1989C>T (p.Gly663=) rs1291428868
NM_001429.4(EP300):c.2005A>G (p.Met669Val) rs749541256
NM_001429.4(EP300):c.307G>A (p.Val103Ile) rs1193355188
NM_001429.4(EP300):c.359G>A (p.Ser120Asn) rs1303897359
NM_001429.4(EP300):c.3617A>G (p.Asn1206Ser) rs779792116
NM_001429.4(EP300):c.4331A>G (p.Asp1444Gly) rs1569117388
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001429.4(EP300):c.4529C>G (p.Pro1510Arg) rs1569118503
NM_001429.4(EP300):c.4994G>A (p.Arg1665His) rs1601639332
NM_001429.4(EP300):c.5422A>C (p.Asn1808His) rs1569120861
NM_001429.4(EP300):c.6043A>G (p.Met2015Val)
NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser) rs779543207
NM_001429.4(EP300):c.7070A>G (p.Asn2357Ser) rs147304540

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