ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome by New York Genome Center

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val) rs369459749 0.00009
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala) rs749249146 0.00004
NM_001429.4(EP300):c.7082A>G (p.Gln2361Arg) rs1263635747 0.00003
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=) rs370689343 0.00002
NM_001429.4(EP300):c.3884C>G (p.Ser1295Cys) rs772897576 0.00001
NM_004380.3(CREBBP):c.3893A>G (p.Tyr1298Cys) rs773159964 0.00001
NM_001429.4(EP300):c.2960C>T (p.Pro987Leu) rs2145740050
NM_001429.4(EP300):c.301G>A (p.Gly101Ser) rs762557708
NM_001429.4(EP300):c.3893T>G (p.Leu1298Arg) rs2145762737
NM_001429.4(EP300):c.7225A>C (p.Ser2409Arg) rs748325077
NM_004380.3(CREBBP):c.1941+8G>A rs761673254
NM_004380.3(CREBBP):c.3779+1G>C rs587783483
NM_004380.3(CREBBP):c.4141G>A (p.Asp1381Asn) rs2052155279
NM_004380.3(CREBBP):c.5844_5846dup (p.Ala1949dup) rs2151307787
NM_004380.3(CREBBP):c.6559C>T (p.Pro2187Ser) rs2151303211
NM_004380.3(CREBBP):c.6839G>A (p.Gly2280Glu) rs781438241
NM_004380.3(CREBBP):c.878T>A (p.Val293Glu) rs1239213391

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