ClinVar Miner

List of variants reported as uncertain significance for Kabuki syndrome 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_001291415.2(KDM6A):c.294A>G (p.Gln98=) rs200940558 0.00006
NM_001291415.2(KDM6A):c.1736C>G (p.Pro579Arg) rs1032545459 0.00005
NM_001291415.2(KDM6A):c.1674A>G (p.Gln558=) rs773682292 0.00004
NM_001291415.2(KDM6A):c.2327T>C (p.Ile776Thr) rs749563708 0.00004
NM_001291415.2(KDM6A):c.149G>A (p.Gly50Asp) rs923984398 0.00003
NM_001291415.2(KDM6A):c.1637T>C (p.Met546Thr) rs1282907228 0.00002
NM_001291415.2(KDM6A):c.1659G>T (p.Gln553His) rs750245702 0.00002
NM_001291415.2(KDM6A):c.676G>C (p.Glu226Gln) rs2043859303 0.00002
NM_001291415.2(KDM6A):c.1747T>C (p.Ser583Pro) rs1194941930 0.00001
NM_001291415.2(KDM6A):c.1811G>C (p.Ser604Thr) rs1288512324 0.00001
NM_001291415.2(KDM6A):c.2044G>A (p.Glu682Lys) rs1423992975 0.00001
NM_001291415.2(KDM6A):c.2116C>T (p.Pro706Ser) rs752105957 0.00001
NM_001291415.2(KDM6A):c.2458A>G (p.Lys820Glu) rs2044742547 0.00001
NM_001291415.2(KDM6A):c.2510T>C (p.Met837Thr) rs1167845073 0.00001
NM_001291415.2(KDM6A):c.2522A>G (p.Asn841Ser) rs747545667 0.00001
NM_001291415.2(KDM6A):c.2821A>G (p.Ile941Val) rs748064342 0.00001
NM_001291415.2(KDM6A):c.3493G>A (p.Val1165Ile) rs367925808 0.00001
NM_001291415.2(KDM6A):c.3748G>C (p.Glu1250Gln) rs1396565624 0.00001
NM_001291415.2(KDM6A):c.415G>A (p.Val139Ile) rs768230343 0.00001
NM_001291415.2(KDM6A):c.583G>A (p.Val195Ile) rs374342798 0.00001
NM_001291415.2(KDM6A):c.1054G>A (p.Ala352Thr)
NM_001291415.2(KDM6A):c.1057G>A (p.Ala353Thr)
NM_001291415.2(KDM6A):c.1106A>C (p.Gln369Pro)
NM_001291415.2(KDM6A):c.1194+16G>A
NM_001291415.2(KDM6A):c.13G>A (p.Gly5Arg)
NM_001291415.2(KDM6A):c.1468A>G (p.Thr490Ala) rs1428483797
NM_001291415.2(KDM6A):c.152G>T (p.Gly51Val) rs1352040501
NM_001291415.2(KDM6A):c.2114G>A (p.Gly705Asp)
NM_001291415.2(KDM6A):c.2284C>A (p.Gln762Lys) rs1358181248
NM_001291415.2(KDM6A):c.2290A>T (p.Ile764Phe)
NM_001291415.2(KDM6A):c.2305G>A (p.Glu769Lys)
NM_001291415.2(KDM6A):c.233G>A (p.Arg78His)
NM_001291415.2(KDM6A):c.2345C>G (p.Thr782Arg) rs775630807
NM_001291415.2(KDM6A):c.2405A>G (p.His802Arg)
NM_001291415.2(KDM6A):c.2408T>A (p.Val803Asp) rs113891421
NM_001291415.2(KDM6A):c.2467G>T (p.Gly823Cys)
NM_001291415.2(KDM6A):c.2532G>A (p.Val844=)
NM_001291415.2(KDM6A):c.2614T>G (p.Ser872Ala)
NM_001291415.2(KDM6A):c.2623A>G (p.Ile875Val)
NM_001291415.2(KDM6A):c.3095-6A>G rs2148117604
NM_001291415.2(KDM6A):c.3117A>G (p.Lys1039=)
NM_001291415.2(KDM6A):c.3124G>A (p.Val1042Met)
NM_001291415.2(KDM6A):c.322G>A (p.Asp108Asn) rs1569484132
NM_001291415.2(KDM6A):c.3361G>T (p.Asp1121Tyr)
NM_001291415.2(KDM6A):c.3730T>A (p.Ser1244Thr) rs1602985775
NM_001291415.2(KDM6A):c.37G>A (p.Ala13Thr)
NM_001291415.2(KDM6A):c.3826A>G (p.Thr1276Ala)
NM_001291415.2(KDM6A):c.39_44dup (p.Ala17_Phe18insAlaAla) rs1569312792
NM_001291415.2(KDM6A):c.4055T>A (p.Leu1352Gln)
NM_001291415.2(KDM6A):c.526A>T (p.Met176Leu)
NM_001291415.2(KDM6A):c.565-5T>G
NM_001291415.2(KDM6A):c.606G>T (p.Leu202Phe)
NM_001291415.2(KDM6A):c.655-9G>T
NM_001291415.2(KDM6A):c.65A>C (p.Glu22Ala) rs760601613
NM_001291415.2(KDM6A):c.721G>A (p.Val241Ile)
NM_001291415.2(KDM6A):c.95G>A (p.Gly32Asp)

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