ClinVar Miner

List of variants in gene KMT5B studied for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_017635.5(KMT5B):c.1619G>A (p.Arg540Gln) rs565603169 0.00014
NM_017635.5(KMT5B):c.1538C>T (p.Ala513Val) rs377163167 0.00002
NM_017635.5(KMT5B):c.1616G>A (p.Arg539Gln) rs367596003 0.00001
NM_017635.5(KMT5B):c.1690T>C (p.Tyr564His) rs1238524382 0.00001
NM_017635.5(KMT5B):c.1174+1575C>G
NM_017635.5(KMT5B):c.1183C>T (p.Arg395Ter)
NM_017635.5(KMT5B):c.1190C>A (p.Ser397Tyr) rs2153041082
NM_017635.5(KMT5B):c.1411G>T (p.Glu471Ter)
NM_017635.5(KMT5B):c.1530_1534del (p.His512fs) rs2153040748
NM_017635.5(KMT5B):c.1557_1558del (p.Asn520fs) rs1555023232
NM_017635.5(KMT5B):c.1618C>T (p.Arg540Trp)
NM_017635.5(KMT5B):c.1823del (p.Gly608fs)
NM_017635.5(KMT5B):c.2020G>A (p.Gly674Ser)
NM_017635.5(KMT5B):c.2021G>A (p.Gly674Asp)
NM_017635.5(KMT5B):c.2074G>A (p.Ala692Thr) rs2153040244
NM_017635.5(KMT5B):c.219del (p.Ala74fs) rs1565240833
NM_017635.5(KMT5B):c.2347C>T (p.Arg783Ter)
NM_017635.5(KMT5B):c.2413C>T (p.Pro805Ser) rs2153039971
NM_017635.5(KMT5B):c.2422_2425del (p.Leu808fs) rs2153039957
NM_017635.5(KMT5B):c.2435G>C (p.Arg812Pro)
NM_017635.5(KMT5B):c.2471_2474del (p.Glu824fs)
NM_017635.5(KMT5B):c.2511GGA[1] (p.Glu838del) rs761209606
NM_017635.5(KMT5B):c.255del (p.Ser86fs) rs1555034768
NM_017635.5(KMT5B):c.268G>A (p.Asp90Asn) rs2153068007
NM_017635.5(KMT5B):c.309-5_309-2del rs779089106
NM_017635.5(KMT5B):c.329C>G (p.Ser110Ter) rs1856779339
NM_017635.5(KMT5B):c.431_432del (p.Arg143_Phe144insTer) rs1856229182
NM_017635.5(KMT5B):c.541C>G (p.His181Asp) rs2153055850
NM_017635.5(KMT5B):c.544-19dup rs3832715
NM_017635.5(KMT5B):c.550A>G (p.Ile184Val)
NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter) rs114727354
NM_017635.5(KMT5B):c.668_672del (p.Lys223fs) rs1590956245
NM_017635.5(KMT5B):c.712GAG[1] (p.Glu239del)
NM_017635.5(KMT5B):c.725del (p.Leu242fs) rs1555028154
NM_017635.5(KMT5B):c.787C>T (p.Leu263Phe) rs2153052371
NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser) rs1555028104
NM_017635.5(KMT5B):c.833A>T (p.Asn278Ile) rs2153052073
NM_017635.5(KMT5B):c.840+1_840+5del rs2153052061
NM_017635.5(KMT5B):c.856C>T (p.Arg286Ter) rs1590954686
NM_017635.5(KMT5B):c.857G>A (p.Arg286Gln)
NM_017635.5(KMT5B):c.877G>C (p.Ala293Pro)
NM_017635.5(KMT5B):c.904G>A (p.Glu302Lys)
NM_017635.5(KMT5B):c.914G>A (p.Cys305Tyr)
NM_017635.5(KMT5B):c.923G>A (p.Gly308Glu)
NM_017635.5(KMT5B):c.96dup (p.Gln33fs)
NM_017635.5(KMT5B):c.972C>G (p.Cys324Trp)

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