ClinVar Miner

List of variants in gene RBBP8 studied for Seckel syndrome

Included ClinVar conditions (16):
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Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP
NM_002894.3(RBBP8):c.*168T>A rs551351149
NM_002894.3(RBBP8):c.*223C>T rs535463636
NM_002894.3(RBBP8):c.*97G>C rs777642288
NM_002894.3(RBBP8):c.-102G>A rs886053658
NM_002894.3(RBBP8):c.-134G>A rs144559748
NM_002894.3(RBBP8):c.-165C>G rs886053657
NM_002894.3(RBBP8):c.-180G>A rs529532376
NM_002894.3(RBBP8):c.-194C>T rs116097101
NM_002894.3(RBBP8):c.-208G>C rs886053656
NM_002894.3(RBBP8):c.-57T>C rs181038099
NM_002894.3(RBBP8):c.-83A>G rs886053659
NM_002894.3(RBBP8):c.1009A>G (p.Lys337Glu) rs121434388
NM_002894.3(RBBP8):c.1071A>C (p.Lys357Asn) rs34678569
NM_002894.3(RBBP8):c.110-15C>T rs201687908
NM_002894.3(RBBP8):c.1260T>C (p.Asn420=) rs886053660
NM_002894.3(RBBP8):c.1290T>A (p.Thr430=) rs74565999
NM_002894.3(RBBP8):c.1367A>G (p.His456Arg) rs139743319
NM_002894.3(RBBP8):c.1386A>G (p.Gln462=) rs112405175
NM_002894.3(RBBP8):c.1632G>A (p.Thr544=) rs371151302
NM_002894.3(RBBP8):c.1644T>C (p.Asp548=) rs34780140
NM_002894.3(RBBP8):c.1813-9C>A rs529873737
NM_002894.3(RBBP8):c.1902T>C (p.Cys634=) rs201620586
NM_002894.3(RBBP8):c.1939+12A>G rs60178443
NM_002894.3(RBBP8):c.1967G>A (p.Ser656Asn) rs533709575
NM_002894.3(RBBP8):c.2115G>A (p.Lys705=) rs17852769
NM_002894.3(RBBP8):c.2142A>T (p.Ser714=) rs886053661
NM_002894.3(RBBP8):c.2287+53T>G rs587776883
NM_002894.3(RBBP8):c.2399G>A (p.Arg800Gln) rs759365253
NM_002894.3(RBBP8):c.2455-4T>G rs374660795
NM_002894.3(RBBP8):c.248+12A>C rs144411132
NM_002894.3(RBBP8):c.2516G>A (p.Arg839Gln) rs140196819
NM_002894.3(RBBP8):c.2630G>A (p.Arg877His) rs201195506
NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp) rs373804633
NM_002894.3(RBBP8):c.348T>C (p.Leu116=) rs746385731
NM_002894.3(RBBP8):c.604+1G>T rs587780432
NM_002894.3(RBBP8):c.684T>C (p.Tyr228=) rs199995388
NM_002894.3(RBBP8):c.736C>G (p.Pro246Ala) rs34372414
NM_002894.3(RBBP8):c.891A>G (p.Glu297=) rs140403315
NM_002894.3(RBBP8):c.927A>G (p.Ser309=) rs370136343

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