ClinVar Miner

List of variants in gene KCTD17 reported as likely benign for combined dystonia

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001282684.2(KCTD17):c.916C>G (p.His306Asp) rs146711968 0.00156
NM_001282684.2(KCTD17):c.390+6G>A rs149432408 0.00111
NM_001282684.2(KCTD17):c.882C>T (p.Tyr294=) rs142739650 0.00033
NM_001282684.2(KCTD17):c.777C>T (p.Pro259=) rs548803912 0.00015
NM_001282684.2(KCTD17):c.894A>T (p.Ala298=) rs758691104 0.00014
NM_001282684.2(KCTD17):c.499G>A (p.Gly167Ser) rs200563649 0.00010
NM_001282684.2(KCTD17):c.306G>A (p.Leu102=) rs755532238 0.00006
NM_001282684.2(KCTD17):c.699T>C (p.Asp233=) rs969405373 0.00006
NM_001282684.2(KCTD17):c.99G>A (p.Thr33=) rs747826376 0.00006
NM_001282684.2(KCTD17):c.234C>T (p.Phe78=) rs756682413 0.00005
NM_001282684.2(KCTD17):c.123G>A (p.Thr41=) rs1307842544 0.00004
NM_001282684.2(KCTD17):c.486+20G>A rs372989339 0.00002
NM_001282684.2(KCTD17):c.255C>G (p.Leu85=) rs147970401 0.00001
NM_001282684.2(KCTD17):c.444G>A (p.Thr148=) rs750621399 0.00001
NM_001282684.2(KCTD17):c.522C>T (p.Ser174=) rs577803443 0.00001
NM_001282684.2(KCTD17):c.875+14C>T rs754430753 0.00001
NM_001282684.2(KCTD17):c.93G>A (p.Gly31=) rs956007175 0.00001
NM_001282684.2(KCTD17):c.144C>T (p.Ser48=) rs572333922
NM_001282684.2(KCTD17):c.189+19G>A
NM_001282684.2(KCTD17):c.190-15C>T
NM_001282684.2(KCTD17):c.331G>A (p.Gly111Ser)
NM_001282684.2(KCTD17):c.360G>A (p.Arg120=)
NM_001282684.2(KCTD17):c.390+13G>A
NM_001282684.2(KCTD17):c.390+20C>A
NM_001282684.2(KCTD17):c.391-14C>T
NM_001282684.2(KCTD17):c.391-8G>T rs770530808
NM_001282684.2(KCTD17):c.489G>T (p.Leu163=)
NM_001282684.2(KCTD17):c.516C>T (p.Tyr172=)
NM_001282684.2(KCTD17):c.579C>T (p.Asn193=)
NM_001282684.2(KCTD17):c.613-14C>T
NM_001282684.2(KCTD17):c.613-17C>T
NM_001282684.2(KCTD17):c.735T>G (p.Ala245=)
NM_001282684.2(KCTD17):c.771G>A (p.Pro257=)
NM_001282684.2(KCTD17):c.785-10C>T
NM_001282684.2(KCTD17):c.785-15G>A
NM_001282684.2(KCTD17):c.795G>A (p.Pro265=)
NM_001282684.2(KCTD17):c.849C>T (p.Leu283=)
NM_001282684.2(KCTD17):c.875+15G>A
NM_001282684.2(KCTD17):c.875+9C>T
NM_001282684.2(KCTD17):c.876-13C>G
NM_001282684.2(KCTD17):c.876-13_876-12del rs754259514
NM_001282684.2(KCTD17):c.876-20T>G
NM_001282684.2(KCTD17):c.898G>A (p.Gly300Arg)
NM_001282684.2(KCTD17):c.906G>A (p.Glu302=)
NM_001282684.2(KCTD17):c.90G>C (p.Val30=)

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