ClinVar Miner

List of variants reported as likely benign for blepharophimosis - intellectual disability syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_012330.4(KAT6B):c.4407G>A (p.Ser1469=) rs114126792 0.00421
NM_012330.4(KAT6B):c.375C>T (p.Ser125=) rs41314998 0.00269
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660 0.00225
NM_012330.4(KAT6B):c.3729G>C (p.Lys1243Asn) rs550048327 0.00035
NM_012330.4(KAT6B):c.2374-10T>C rs376833457 0.00034
NM_012330.4(KAT6B):c.6162C>T (p.His2054=) rs192237531 0.00030
NM_012330.4(KAT6B):c.4434C>T (p.Gly1478=) rs148364222 0.00026
NM_012330.4(KAT6B):c.4611C>T (p.Ile1537=) rs371945178 0.00024
NM_012330.4(KAT6B):c.5355C>T (p.Pro1785=) rs138711901 0.00024
NM_012330.4(KAT6B):c.4211G>A (p.Arg1404His) rs563033366 0.00021
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser) rs587778437 0.00018
NM_012330.4(KAT6B):c.3028C>T (p.Arg1010Trp) rs142309185 0.00016
NM_012330.4(KAT6B):c.5922G>A (p.Ala1974=) rs780751688 0.00016
NM_012330.4(KAT6B):c.6048G>A (p.Thr2016=) rs116978399 0.00016
NM_012330.4(KAT6B):c.1994-20C>T rs373239366 0.00014
NM_012330.4(KAT6B):c.4659C>T (p.Ser1553=) rs147158118 0.00014
NM_012330.4(KAT6B):c.5679G>A (p.Pro1893=) rs370977553 0.00011
NM_005120.3(MED12):c.3942T>C (p.Ser1314=) rs3810670 0.00010
NM_012330.4(KAT6B):c.3337T>C (p.Leu1113=) rs751986009 0.00010
NM_012330.4(KAT6B):c.4036G>T (p.Asp1346Tyr) rs542036896 0.00010
NM_012330.4(KAT6B):c.699A>G (p.Glu233=) rs188787788 0.00010
NM_012330.4(KAT6B):c.147A>G (p.Glu49=) rs1041827351 0.00009
NM_012330.4(KAT6B):c.5433G>A (p.Pro1811=) rs201084874 0.00009
NM_012330.4(KAT6B):c.3477C>G (p.Pro1159=) rs145574734 0.00007
NM_012330.4(KAT6B):c.4077G>A (p.Glu1359=) rs560274634 0.00007
NM_012330.4(KAT6B):c.4478C>T (p.Ala1493Val) rs369068910 0.00007
NM_012330.4(KAT6B):c.519G>A (p.Arg173=) rs374557982 0.00006
NM_012330.4(KAT6B):c.846+16G>A rs374506959 0.00006
NM_012330.4(KAT6B):c.3801C>T (p.Thr1267=) rs375206291 0.00005
NM_012330.4(KAT6B):c.4878C>T (p.Tyr1626=) rs146568876 0.00005
NM_012330.4(KAT6B):c.3216A>G (p.Glu1072=) rs776709807 0.00004
NM_012330.4(KAT6B):c.6153C>T (p.Pro2051=) rs544887456 0.00004
NM_012330.4(KAT6B):c.4384C>A (p.Leu1462Ile) rs374530664 0.00003
NM_012330.4(KAT6B):c.1539C>T (p.Ala513=) rs774605212 0.00002
NM_012330.4(KAT6B):c.3122C>T (p.Ser1041Leu) rs377321963 0.00002
NM_012330.4(KAT6B):c.510G>A (p.Pro170=) rs750020725 0.00002
NM_005120.3(MED12):c.1974+15C>T rs186876895 0.00001
NM_012330.4(KAT6B):c.1782A>G (p.Arg594=) rs376823181 0.00001
NM_012330.4(KAT6B):c.2115+13T>A rs375539342 0.00001
NM_012330.4(KAT6B):c.282G>A (p.Gly94=) rs569038847 0.00001
NM_012330.4(KAT6B):c.2991G>A (p.Val997=) rs1421489322 0.00001
NM_012330.4(KAT6B):c.3117A>G (p.Val1039=) rs779092722 0.00001
NM_012330.4(KAT6B):c.4080A>G (p.Glu1360=) rs546432678 0.00001
NM_012330.4(KAT6B):c.5112C>T (p.Cys1704=) rs767983250 0.00001
NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del) rs757160341
NM_012330.4(KAT6B):c.2790G>T (p.Ala930=) rs765834987
NM_012330.4(KAT6B):c.3289GAA[6] (p.Glu1103_Glu1104del) rs71929101
NM_012330.4(KAT6B):c.3717C>G (p.Pro1239=) rs147746065
NM_012330.4(KAT6B):c.4065GGA[3] (p.Glu1367_Glu1368del) rs367634881
NM_012330.4(KAT6B):c.622-7G>A rs751195432

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