ClinVar Miner

List of variants in gene DNAJC5 reported as uncertain significance for Neuronal ceroid lipofuscinosis

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Total variants: 27
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HGVS dbSNP
NC_000020.10:g.(?_62559679)_(62562941_?)dup
NC_000020.10:g.(?_62559688)_(62567384_?)dup
NC_000020.11:g.(?_63928326)_(63931588_?)del
NM_025219.3(DNAJC5):c.14G>A (p.Arg5Lys) rs1006274437
NM_025219.3(DNAJC5):c.161C>T (p.Ala54Val) rs754887788
NM_025219.3(DNAJC5):c.188C>T (p.Ala63Val) rs139312819
NM_025219.3(DNAJC5):c.193G>A (p.Ala65Thr)
NM_025219.3(DNAJC5):c.203C>T (p.Thr68Met)
NM_025219.3(DNAJC5):c.204G>A (p.Thr68=) rs1002205118
NM_025219.3(DNAJC5):c.20G>A (p.Arg7His)
NM_025219.3(DNAJC5):c.232A>G (p.Lys78Glu)
NM_025219.3(DNAJC5):c.238G>A (p.Gly80Ser) rs1555879996
NM_025219.3(DNAJC5):c.242C>T (p.Ser81Leu) rs933246467
NM_025219.3(DNAJC5):c.319A>C (p.Lys107Gln)
NM_025219.3(DNAJC5):c.321+8C>T rs773607766
NM_025219.3(DNAJC5):c.322G>T (p.Ala108Ser) rs1322303376
NM_025219.3(DNAJC5):c.389A>G (p.Asn130Ser)
NM_025219.3(DNAJC5):c.429C>T (p.Gly143=)
NM_025219.3(DNAJC5):c.448G>A (p.Val150Met) rs146719477
NM_025219.3(DNAJC5):c.491G>A (p.Arg164Lys) rs762961919
NM_025219.3(DNAJC5):c.506C>T (p.Thr169Met)
NM_025219.3(DNAJC5):c.509C>T (p.Pro170Leu) rs770758533
NM_025219.3(DNAJC5):c.524C>T (p.Pro175Leu) rs761982169
NM_025219.3(DNAJC5):c.527C>T (p.Ala176Val) rs199540600
NM_025219.3(DNAJC5):c.532G>A (p.Ala178Thr) rs766374425
NM_025219.3(DNAJC5):c.74A>G (p.Asn25Ser)
NM_025219.3(DNAJC5):c.76G>A (p.Ala26Thr) rs753722773

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