ClinVar Miner

List of variants in gene KDM1A studied for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Included ClinVar conditions (406):
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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001009999.3(KDM1A):c.136G>A (p.Gly46Ser) rs144822945 0.00607
NM_001009999.3(KDM1A):c.2448G>A (p.Pro816=) rs137940710 0.00226
NM_001009999.3(KDM1A):c.160G>A (p.Ala54Thr) rs1358497272 0.00009
NM_001009999.3(KDM1A):c.131T>C (p.Leu44Pro) rs1641551328 0.00001
NM_001009999.3(KDM1A):c.1901C>T (p.Thr634Met) rs1363624048 0.00001
NM_001009999.3(KDM1A):c.1123_1126dup (p.Ile376fs)
NM_001009999.3(KDM1A):c.1207G>A (p.Glu403Lys) rs864309715
NM_001009999.3(KDM1A):c.161C>T (p.Ala54Val)
NM_001009999.3(KDM1A):c.1720A>G (p.Lys574Glu) rs1553131717
NM_001009999.3(KDM1A):c.1739A>G (p.Asp580Gly) rs864309716
NM_001009999.3(KDM1A):c.1747G>C (p.Glu583Gln)
NM_001009999.3(KDM1A):c.1837G>A (p.Ala613Thr)
NM_001009999.3(KDM1A):c.1930G>A (p.Ala644Thr)
NM_001009999.3(KDM1A):c.1974del (p.Pro659fs)
NM_001009999.3(KDM1A):c.1975C>T (p.Pro659Ser) rs767582484
NM_001009999.3(KDM1A):c.2106C>G (p.Phe702Leu)
NM_001009999.3(KDM1A):c.211C>T (p.Pro71Ser)
NM_001009999.3(KDM1A):c.2300_2307dup (p.Thr770fs)
NM_001009999.3(KDM1A):c.2353T>C (p.Tyr785His) rs864309714
NM_001009999.3(KDM1A):c.2435G>C (p.Gly812Ala)
NM_001009999.3(KDM1A):c.2456G>A (p.Arg819Gln)
NM_001009999.3(KDM1A):c.2563G>A (p.Gly855Arg)
NM_001009999.3(KDM1A):c.278C>A (p.Ser93Tyr) rs1011602988
NM_001009999.3(KDM1A):c.541G>C (p.Asp181His)
NM_001009999.3(KDM1A):c.711+1G>A
NM_001009999.3(KDM1A):c.911T>C (p.Ile304Thr)

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