ClinVar Miner

List of variants in gene KDM5C reported as likely pathogenic for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_004187.5(KDM5C):c.322C>T (p.Arg108Trp) rs146232504 0.00001
NM_004187.5(KDM5C):c.1204G>A (p.Asp402Asn)
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004187.5(KDM5C):c.1447del (p.Glu483fs)
NM_004187.5(KDM5C):c.1549dup (p.Asp517fs) rs2146915836
NM_004187.5(KDM5C):c.1602G>C (p.Trp534Cys) rs2146914735
NM_004187.5(KDM5C):c.1606G>A (p.Gly536Arg) rs2073528836
NM_004187.5(KDM5C):c.1613C>T (p.Pro538Leu) rs587780372
NM_004187.5(KDM5C):c.1747G>T (p.Val583Phe) rs1602183890
NM_004187.5(KDM5C):c.1793C>G (p.Pro598Arg)
NM_004187.5(KDM5C):c.1795C>T (p.Arg599Cys)
NM_004187.5(KDM5C):c.1823G>T (p.Gly608Val) rs2073151214
NM_004187.5(KDM5C):c.1843G>T (p.Val615Phe) rs2146868023
NM_004187.5(KDM5C):c.1862A>G (p.Asp621Gly) rs2146867887
NM_004187.5(KDM5C):c.1866G>T (p.Trp622Cys) rs1602183619
NM_004187.5(KDM5C):c.208C>T (p.Gln70Ter) rs2146961698
NM_004187.5(KDM5C):c.2243+1G>T rs2073058023
NM_004187.5(KDM5C):c.2248C>T (p.Arg750Trp) rs2146851322
NM_004187.5(KDM5C):c.255C>G (p.Tyr85Ter) rs1602231587
NM_004187.5(KDM5C):c.3208C>T (p.Gln1070Ter)
NM_004187.5(KDM5C):c.3332_3335del (p.Asp1111fs) rs1934728804
NM_004187.5(KDM5C):c.3412C>T (p.Gln1138Ter) rs1934722562
NM_004187.5(KDM5C):c.3656T>G (p.Leu1219Arg)
NM_004187.5(KDM5C):c.3845_3846del (p.Thr1282fs)
NM_004187.5(KDM5C):c.4118-2A>G rs2146815883
NM_004187.5(KDM5C):c.589dup (p.Leu197fs) rs1602228596
NM_004187.5(KDM5C):c.593G>A (p.Arg198Gln)
NM_004187.5(KDM5C):c.709C>T (p.Gln237Ter) rs1602226289
NM_004187.5(KDM5C):c.807del (p.Thr270fs) rs1569278313

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