ClinVar Miner

List of variants studied for Kleefstra syndrome 2 by Revvity Omics, Revvity

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_170606.3(KMT2C):c.10513A>G (p.Asn3505Asp) rs140626076 0.00036
NM_170606.3(KMT2C):c.5957G>A (p.Arg1986Gln) rs138373177 0.00024
NM_170606.3(KMT2C):c.10270G>A (p.Ala3424Thr) rs776155729 0.00009
NM_170606.3(KMT2C):c.1700A>G (p.Asn567Ser) rs12674022 0.00006
NM_170606.3(KMT2C):c.7372T>C (p.Phe2458Leu) rs375555515 0.00006
NM_170606.3(KMT2C):c.14017C>T (p.Arg4673Cys) rs370620314 0.00003
NM_170606.3(KMT2C):c.12370A>G (p.Met4124Val) rs587778509 0.00002
NM_170606.3(KMT2C):c.9823A>G (p.Met3275Val) rs182795390 0.00002
NM_170606.3(KMT2C):c.13158G>T (p.Leu4386Phe) rs762380795 0.00001
NM_170606.3(KMT2C):c.53C>T (p.Pro18Leu) rs758889240 0.00001
NM_170606.3(KMT2C):c.10116T>G (p.Asn3372Lys)
NM_170606.3(KMT2C):c.10144C>T (p.Arg3382Trp)
NM_170606.3(KMT2C):c.10335G>T (p.Arg3445Ser)
NM_170606.3(KMT2C):c.10877A>C (p.His3626Pro)
NM_170606.3(KMT2C):c.11125A>G (p.Met3709Val)
NM_170606.3(KMT2C):c.11254C>T (p.Pro3752Ser)
NM_170606.3(KMT2C):c.11260T>C (p.Ser3754Pro)
NM_170606.3(KMT2C):c.11405A>G (p.Asp3802Gly)
NM_170606.3(KMT2C):c.11984G>A (p.Arg3995Gln)
NM_170606.3(KMT2C):c.12443C>T (p.Pro4148Leu)
NM_170606.3(KMT2C):c.12444G>T (p.Pro4148=) rs147957197
NM_170606.3(KMT2C):c.14320T>C (p.Tyr4774His)
NM_170606.3(KMT2C):c.14343+3G>A
NM_170606.3(KMT2C):c.14669T>A (p.Phe4890Tyr) rs2089918301
NM_170606.3(KMT2C):c.2291C>T (p.Ser764Phe)
NM_170606.3(KMT2C):c.2483del (p.Pro828fs)
NM_170606.3(KMT2C):c.278A>T (p.Asp93Val)
NM_170606.3(KMT2C):c.3194C>G (p.Ala1065Gly) rs1284707010
NM_170606.3(KMT2C):c.3599C>G (p.Ser1200Ter) rs2129145649
NM_170606.3(KMT2C):c.461G>C (p.Arg154Thr)
NM_170606.3(KMT2C):c.5030A>G (p.Gln1677Arg)
NM_170606.3(KMT2C):c.508AAG[1] (p.Lys171del)
NM_170606.3(KMT2C):c.5171G>A (p.Ser1724Asn)
NM_170606.3(KMT2C):c.5189G>T (p.Arg1730Leu)
NM_170606.3(KMT2C):c.5198C>T (p.Ser1733Leu)
NM_170606.3(KMT2C):c.530G>A (p.Ser177Asn)
NM_170606.3(KMT2C):c.5336A>C (p.Glu1779Ala)
NM_170606.3(KMT2C):c.5536G>A (p.Val1846Met)
NM_170606.3(KMT2C):c.5584A>C (p.Ile1862Leu)
NM_170606.3(KMT2C):c.6278C>T (p.Pro2093Leu)
NM_170606.3(KMT2C):c.6308C>G (p.Pro2103Arg)
NM_170606.3(KMT2C):c.6431C>A (p.Ser2144Tyr)
NM_170606.3(KMT2C):c.6439C>G (p.Gln2147Glu)
NM_170606.3(KMT2C):c.6511G>A (p.Val2171Ile)
NM_170606.3(KMT2C):c.6887G>T (p.Arg2296Leu)
NM_170606.3(KMT2C):c.7133C>G (p.Thr2378Arg)
NM_170606.3(KMT2C):c.7258C>G (p.Leu2420Val)
NM_170606.3(KMT2C):c.7631A>G (p.Gln2544Arg)
NM_170606.3(KMT2C):c.7786C>T (p.Arg2596Trp)
NM_170606.3(KMT2C):c.8029A>G (p.Ile2677Val)
NM_170606.3(KMT2C):c.8218A>G (p.Thr2740Ala)
NM_170606.3(KMT2C):c.8298G>A (p.Met2766Ile)
NM_170606.3(KMT2C):c.8436A>G (p.Pro2812=)
NM_170606.3(KMT2C):c.8591A>T (p.Asp2864Val)
NM_170606.3(KMT2C):c.8792A>T (p.Asp2931Val)
NM_170606.3(KMT2C):c.8819C>T (p.Pro2940Leu)
NM_170606.3(KMT2C):c.8849A>G (p.His2950Arg)
NM_170606.3(KMT2C):c.8957G>A (p.Gly2986Asp)
NM_170606.3(KMT2C):c.8963A>T (p.Gln2988Leu)
NM_170606.3(KMT2C):c.9259A>G (p.Ile3087Val)
NM_170606.3(KMT2C):c.9848G>C (p.Ser3283Thr)

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