ClinVar Miner

List of variants studied for Ohdo syndrome and variants

Included ClinVar conditions (4):
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Total variants: 41
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HGVS dbSNP
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly) rs752300879
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp) rs368913305
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala) rs765417606
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe) rs1307587368
NM_005120.3(MED12):c.2545T>C (p.Ser849Pro) rs1135401775
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.3210-27C>T rs752463122
NM_005120.3(MED12):c.3443G>A (p.Arg1148His) rs387907360
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro) rs387907361
NM_005120.3(MED12):c.5017_5019AAG[1] (p.Lys1674del)
NM_005120.3(MED12):c.5185C>A (p.His1729Asn) rs387907362
NM_005120.3(MED12):c.6097A>G (p.Met2033Val) rs372606012
NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del) rs767827315
NM_005120.3(MED12):c.6267+166G>A rs1247198443
NM_005120.3(MED12):c.628G>C (p.Ala210Pro) rs1379201163
NM_012330.4(KAT6B):c.2116-9A>G rs747646395
NM_012330.4(KAT6B):c.2299C>T (p.His767Tyr)
NM_012330.4(KAT6B):c.3018del (p.Glu1007fs) rs199470468
NM_012330.4(KAT6B):c.3041_3042del (p.Gln1014fs)
NM_012330.4(KAT6B):c.3147G>A (p.Pro1049=) rs886041207
NM_012330.4(KAT6B):c.3216del (p.Glu1073fs) rs1554843829
NM_012330.4(KAT6B):c.3231_3242del (p.Asp1077_Glu1080del) rs569172957
NM_012330.4(KAT6B):c.3256G>T (p.Glu1086Ter) rs751215527
NM_012330.4(KAT6B):c.3477_3480dup (p.Asp1161delinsLeuTer)
NM_012330.4(KAT6B):c.3606_3609del (p.Thr1203fs)
NM_012330.4(KAT6B):c.3664+1G>A rs1057516033
NM_012330.4(KAT6B):c.3962_3963del (p.Gln1321fs) rs863224883
NM_012330.4(KAT6B):c.4065_4067GGA[4] (p.Glu1368del) rs367634881
NM_012330.4(KAT6B):c.4069G>T (p.Glu1357Ter) rs199470476
NM_012330.4(KAT6B):c.4203_4204CT[1] (p.Ser1402fs) rs199470477
NM_012330.4(KAT6B):c.4298_4304delinsTC (p.His1433fs)
NM_012330.4(KAT6B):c.4405dup (p.Ser1469fs) rs199470479
NM_012330.4(KAT6B):c.4554_4555dup (p.Asn1519fs) rs1554845880
NM_012330.4(KAT6B):c.4584del (p.Glu1529fs) rs1554845902
NM_012330.4(KAT6B):c.5064_5071delinsCACA (p.Met1690fs) rs387907364
NM_012330.4(KAT6B):c.5167dup (p.Gln1723fs)
NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs) rs199470482
NM_012330.4(KAT6B):c.5370_5373dup (p.Ile1792fs) rs199470483
NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter) rs199470484
NM_012330.4(KAT6B):c.5675C>T (p.Pro1892Leu) rs1037774698
NM_012330.4(KAT6B):c.5949C>A (p.Asn1983Lys) rs745470061

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