ClinVar Miner

List of variants studied for Kleefstra syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (6):
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Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_170606.3(KMT2C):c.4508-12A>T rs28418446 0.01078
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser) rs34704821 0.00856
NM_170606.3(KMT2C):c.162-17T>A rs187902675 0.00620
NM_024757.5(EHMT1):c.1249-9G>T rs73669157 0.00552
NM_170606.3(KMT2C):c.11139C>T (p.Ala3713=) rs140482040 0.00273
NM_170606.3(KMT2C):c.1139G>T (p.Arg380Leu) rs138908625 0.00150
NM_024757.5(EHMT1):c.204T>C (p.Asn68=) rs3812496 0.00043
NM_170606.3(KMT2C):c.2702T>C (p.Leu901Pro) rs370313067 0.00036
NM_170606.3(KMT2C):c.5171G>T (p.Ser1724Ile) rs138819584 0.00033
NM_170606.3(KMT2C):c.10980G>A (p.Ser3660=) rs201190450 0.00016
NM_024757.5(EHMT1):c.2025C>T (p.Ala675=) rs367662089 0.00014
NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp) rs368995503 0.00013
NM_024757.5(EHMT1):c.1081G>A (p.Gly361Ser) rs143891279 0.00010
NM_024757.5(EHMT1):c.1433G>A (p.Gly478Glu) rs376787713 0.00006
NM_024757.5(EHMT1):c.2642C>T (p.Thr881Ile) rs797045554 0.00003
NM_024757.5(EHMT1):c.3322G>A (p.Ala1108Thr) rs199780189 0.00003
NM_170606.3(KMT2C):c.6835C>A (p.Pro2279Thr) rs775809939 0.00002
NM_024757.5(EHMT1):c.1181A>C (p.Glu394Ala) rs773281152 0.00001
NM_024757.5(EHMT1):c.1814C>T (p.Pro605Leu) rs373640528 0.00001
NM_024757.5(EHMT1):c.23C>T (p.Ala8Val) rs375391530 0.00001
NM_024757.5(EHMT1):c.3838G>C (p.Glu1280Gln) rs1215972773 0.00001
NM_024757.5(EHMT1):c.510G>T (p.Gln170His) rs1308431693 0.00001
NM_170606.3(KMT2C):c.12194C>T (p.Ala4065Val) rs141966811 0.00001
NM_170606.3(KMT2C):c.5851G>A (p.Asp1951Asn) rs781220804 0.00001
NM_170606.3(KMT2C):c.709A>G (p.Ile237Val) rs587778510 0.00001
NM_024757.5(EHMT1):c.3541-13TC[3] rs10667884
NM_170606.3(KMT2C):c.1038G>A (p.Val346=) rs770240292
NM_170606.3(KMT2C):c.162-7del rs376309362
NM_170606.3(KMT2C):c.7236C>T (p.Pro2412=) rs140215243

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