ClinVar Miner

List of variants in gene PCBD1 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_000281.4(PCBD1):c.*36G>A rs9712 0.74730
NM_000281.4(PCBD1):c.*253T>A rs77029400 0.01796
NM_000281.4(PCBD1):c.263G>A (p.Arg88Gln) rs115117837 0.00108
NM_000281.4(PCBD1):c.216+18C>T rs183906944 0.00071
NM_000281.4(PCBD1):c.57C>T (p.Asn19=) rs114265283 0.00026
NM_000281.4(PCBD1):c.*114G>A rs562433724 0.00025
NM_000281.4(PCBD1):c.*29G>A rs539645507 0.00022
NM_000281.4(PCBD1):c.292C>T (p.Gln98Ter) rs121913015 0.00014
NM_000281.4(PCBD1):c.205G>A (p.Val69Met) rs200188190 0.00011
NM_000281.4(PCBD1):c.27C>T (p.Ser9=) rs547375927 0.00007
NM_000281.4(PCBD1):c.259G>T (p.Glu87Ter) rs104894172 0.00005
NM_000281.4(PCBD1):c.91C>T (p.Arg31Cys) rs11554325 0.00005
NM_000281.4(PCBD1):c.246T>C (p.Cys82=) rs371676743 0.00004
NM_000281.4(PCBD1):c.262C>T (p.Arg88Trp) rs564505637 0.00004
NM_000281.4(PCBD1):c.228G>A (p.Thr76=) rs778445183 0.00003
NM_000281.4(PCBD1):c.*107C>T rs1846535672 0.00001
NM_000281.4(PCBD1):c.*116C>T rs544135564 0.00001
NM_000281.4(PCBD1):c.179T>C (p.Leu60Pro) rs768330993 0.00001
NM_000281.4(PCBD1):c.204C>T (p.Asn68=) rs778214598 0.00001
NM_000281.4(PCBD1):c.240T>C (p.His80=) rs749751658 0.00001
NM_000281.4(PCBD1):c.244T>C (p.Cys82Arg) rs104894177 0.00001
NM_000281.4(PCBD1):c.249C>T (p.Ala83=) rs148217100 0.00001
NM_000281.4(PCBD1):c.264G>C (p.Arg88=) rs1411706949 0.00001
NM_000281.4(PCBD1):c.289G>A (p.Glu97Lys) rs397518416 0.00001
NM_000281.4(PCBD1):c.294A>G (p.Gln98=) rs773744136 0.00001
NM_000281.3(PCBD1):c.[79G>T;263G>A]
NM_000281.4(PCBD1):c.102C>T (p.Ile34=)
NM_000281.4(PCBD1):c.108_118del (p.Lys36fs)
NM_000281.4(PCBD1):c.111G>A (p.Gln37=)
NM_000281.4(PCBD1):c.111del (p.Gln37fs)
NM_000281.4(PCBD1):c.117_121del (p.His39fs)
NM_000281.4(PCBD1):c.126C>T (p.Asp42=)
NM_000281.4(PCBD1):c.135+12G>C
NM_000281.4(PCBD1):c.135+16G>A
NM_000281.4(PCBD1):c.135+7C>T
NM_000281.4(PCBD1):c.136-11C>T
NM_000281.4(PCBD1):c.136-12C>G
NM_000281.4(PCBD1):c.136-16C>T
NM_000281.4(PCBD1):c.136-18C>T
NM_000281.4(PCBD1):c.141T>C (p.Phe47=)
NM_000281.4(PCBD1):c.162C>T (p.Ala54=)
NM_000281.4(PCBD1):c.165G>A (p.Leu55=)
NM_000281.4(PCBD1):c.189T>C (p.His63=)
NM_000281.4(PCBD1):c.201dup (p.Asn68Ter)
NM_000281.4(PCBD1):c.210CAA[1] (p.Asn71del) rs397518415
NM_000281.4(PCBD1):c.216+15G>T
NM_000281.4(PCBD1):c.216+17G>A
NM_000281.4(PCBD1):c.217-11T>C
NM_000281.4(PCBD1):c.217-12G>A
NM_000281.4(PCBD1):c.217-12G>T
NM_000281.4(PCBD1):c.217-16T>G
NM_000281.4(PCBD1):c.222C>T (p.His74=)
NM_000281.4(PCBD1):c.236C>T (p.Thr79Ile) rs121913014
NM_000281.4(PCBD1):c.24G>A (p.Leu8=)
NM_000281.4(PCBD1):c.252C>G (p.Gly84=)
NM_000281.4(PCBD1):c.252C>T (p.Gly84=)
NM_000281.4(PCBD1):c.262C>A (p.Arg88=)
NM_000281.4(PCBD1):c.270A>C (p.Ile90=)
NM_000281.4(PCBD1):c.272del (p.Asn91fs) rs1589483932
NM_000281.4(PCBD1):c.281G>T (p.Ser94Ile) rs1846540236
NM_000281.4(PCBD1):c.286A>G (p.Ile96Val)
NM_000281.4(PCBD1):c.288C>T (p.Ile96=)
NM_000281.4(PCBD1):c.300A>C (p.Ala100=)
NM_000281.4(PCBD1):c.308T>A (p.Met103Lys)
NM_000281.4(PCBD1):c.313T>C (p.Ter105Gln) rs770334825
NM_000281.4(PCBD1):c.37A>T (p.Arg13Trp)
NM_000281.4(PCBD1):c.4-11C>T
NM_000281.4(PCBD1):c.4-12del
NM_000281.4(PCBD1):c.4-12dup
NM_000281.4(PCBD1):c.4-18T>G
NM_000281.4(PCBD1):c.4-19G>C
NM_000281.4(PCBD1):c.4-21_4-20del
NM_000281.4(PCBD1):c.4-4C>G rs1303323172
NM_000281.4(PCBD1):c.4-6T>C
NM_000281.4(PCBD1):c.4-7C>A
NM_000281.4(PCBD1):c.45G>A (p.Gln15=)
NM_000281.4(PCBD1):c.45G>C (p.Gln15His)
NM_000281.4(PCBD1):c.46del (p.Leu16fs) rs397518414
NM_000281.4(PCBD1):c.48G>T (p.Leu16=)
NM_000281.4(PCBD1):c.5C>T (p.Ala2Val) rs1846575724
NM_000281.4(PCBD1):c.60G>C (p.Leu20=)
NM_000281.4(PCBD1):c.61A>C (p.Arg21=)
NM_000281.4(PCBD1):c.66T>C (p.Ala22=)
NM_000281.4(PCBD1):c.72G>A (p.Gly24=)

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