ClinVar Miner

List of variants studied for Kabuki syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001291415.2(KDM6A):c.1164del (p.Ala389fs)
NM_001291415.2(KDM6A):c.1739C>T (p.Thr580Ile)
NM_001291415.2(KDM6A):c.2185C>G (p.Gln729Glu)
NM_001291415.2(KDM6A):c.225+4dup
NM_001291415.2(KDM6A):c.2379dup (p.Ala794fs)
NM_001291415.2(KDM6A):c.4222G>A (p.Val1408Ile) rs2148305714
NM_001291415.2(KDM6A):c.514C>T (p.Arg172Ter) rs189751539
NM_001291415.2(KDM6A):c.660A>T (p.Lys220Asn) rs587778423
NM_003482.4(KMT2D):c.10198C>T (p.Gln3400Ter)
NM_003482.4(KMT2D):c.10255G>T (p.Asp3419Tyr) rs2120462024
NM_003482.4(KMT2D):c.10615C>T (p.Arg3539Trp)
NM_003482.4(KMT2D):c.10942C>A (p.Pro3648Thr) rs777215324
NM_003482.4(KMT2D):c.11119C>T (p.Arg3707Ter)
NM_003482.4(KMT2D):c.11605T>A (p.Ser3869Thr)
NM_003482.4(KMT2D):c.12053C>T (p.Thr4018Ile) rs1304208223
NM_003482.4(KMT2D):c.12268C>T (p.Gln4090Ter) rs1555188155
NM_003482.4(KMT2D):c.1248del (p.Lys417fs)
NM_003482.4(KMT2D):c.12637C>T (p.His4213Tyr) rs1942946917
NM_003482.4(KMT2D):c.14059C>T (p.Gln4687Ter)
NM_003482.4(KMT2D):c.14075+1G>A rs1057516039
NM_003482.4(KMT2D):c.14354T>C (p.Met4785Thr)
NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter) rs398123721
NM_003482.4(KMT2D):c.14795C>T (p.Pro4932Leu)
NM_003482.4(KMT2D):c.15079C>T (p.Arg5027Ter) rs797045659
NM_003482.4(KMT2D):c.16052G>A (p.Arg5351Gln) rs1555185217
NM_003482.4(KMT2D):c.3190del (p.Val1064fs)
NM_003482.4(KMT2D):c.370C>T (p.Leu124Phe)
NM_003482.4(KMT2D):c.4168dup (p.Ala1390fs) rs756471180
NM_003482.4(KMT2D):c.437C>A (p.Ser146Ter)
NM_003482.4(KMT2D):c.4877T>C (p.Leu1626Ser)
NM_003482.4(KMT2D):c.6002G>A (p.Arg2001Gln)
NM_003482.4(KMT2D):c.7778C>A (p.Pro2593His)
NM_003482.4(KMT2D):c.7814A>G (p.Tyr2605Cys)
NM_003482.4(KMT2D):c.7997_8003dup (p.Met2669fs)
NM_003482.4(KMT2D):c.8699C>T (p.Pro2900Leu)
NM_003482.4(KMT2D):c.9791A>G (p.Gln3264Arg)

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