ClinVar Miner

List of variants in gene KDM5C reported as uncertain significance for X-linked disease

Included ClinVar conditions (275):
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Gene type:
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_004187.5(KDM5C):c.4304G>A (p.Arg1435His) rs782413552 0.00007
NM_004187.5(KDM5C):c.4334G>A (p.Arg1445His) rs782272528 0.00003
NM_004187.5(KDM5C):c.2517-7T>G rs1556838825 0.00001
NM_004187.5(KDM5C):c.2866G>A (p.Ala956Thr) rs1392496114 0.00001
NM_004187.5(KDM5C):c.3940C>T (p.Arg1314Trp) rs370060257 0.00001
NM_004187.5(KDM5C):c.4523C>T (p.Pro1508Leu) rs1556832305 0.00001
NM_004187.5(KDM5C):c.4566C>A (p.Asn1522Lys) rs1245355138 0.00001
NM_004187.5(KDM5C):c.475C>T (p.Arg159Cys) rs1556852786 0.00001
NM_004187.5(KDM5C):c.860C>T (p.Ser287Leu) rs1428740468 0.00001
NM_004187.5(KDM5C):c.893T>A (p.Leu298Gln) rs137861376 0.00001
NM_004187.5(KDM5C):c.*129C>T rs1602156447
NM_004187.5(KDM5C):c.1243-3C>T
NM_004187.5(KDM5C):c.1267_1269del (p.Lys423del)
NM_004187.5(KDM5C):c.1318T>G (p.Tyr440Asp)
NM_004187.5(KDM5C):c.1354G>A (p.Gly452Ser) rs2073559814
NM_004187.5(KDM5C):c.1583+5G>T rs2073531540
NM_004187.5(KDM5C):c.1586G>C (p.Gly529Ala) rs2146914851
NM_004187.5(KDM5C):c.1681C>G (p.Pro561Ala) rs2146914266
NM_004187.5(KDM5C):c.189C>A (p.Phe63Leu)
NM_004187.5(KDM5C):c.2114G>A (p.Arg705His) rs1569264240
NM_004187.5(KDM5C):c.2474G>A (p.Cys825Tyr)
NM_004187.5(KDM5C):c.2517-15T>A
NM_004187.5(KDM5C):c.2624G>A (p.Gly875Asp) rs2146840102
NM_004187.5(KDM5C):c.2674G>A (p.Ala892Thr) rs2146839898
NM_004187.5(KDM5C):c.2768G>A (p.Arg923Gln) rs1556837428
NM_004187.5(KDM5C):c.2785C>G (p.Arg929Gly)
NM_004187.5(KDM5C):c.2909A>T (p.Gln970Leu)
NM_004187.5(KDM5C):c.3072G>T (p.Glu1024Asp) rs2146833113
NM_004187.5(KDM5C):c.3199G>T (p.Glu1067Ter)
NM_004187.5(KDM5C):c.3517A>T (p.Ser1173Cys) rs1602162404
NM_004187.5(KDM5C):c.359T>C (p.Val120Ala) rs2146951019
NM_004187.5(KDM5C):c.3758C>T (p.Pro1253Leu) rs2146821316
NM_004187.5(KDM5C):c.3961C>A (p.Pro1321Thr)
NM_004187.5(KDM5C):c.3962C>G (p.Pro1321Arg)
NM_004187.5(KDM5C):c.3965_3985del (p.Glu1322_Pro1328del) rs2146819410
NM_004187.5(KDM5C):c.4343G>A (p.Ser1448Asn)
NM_004187.5(KDM5C):c.802C>T (p.Pro268Ser)
NM_004187.5(KDM5C):c.865A>G (p.Lys289Glu) rs782081983
NM_004187.5(KDM5C):c.917C>T (p.Thr306Ile)

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