ClinVar Miner

List of variants in gene CLN3 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile) rs386833744 0.00004
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr) rs765893479 0.00002
NM_001042432.2(CLN3):c.962+3A>T rs796052336 0.00001
NM_001042432.2(CLN3):c.1004C>A (p.Ser335Tyr) rs765157752
NM_001042432.2(CLN3):c.141del (p.Leu46_Cys47insTer) rs1064795153
NM_001042432.2(CLN3):c.240del (p.Pro81fs) rs748710466
NM_001042432.2(CLN3):c.2T>C (p.Met1Thr) rs777625354
NM_001042432.2(CLN3):c.370del (p.Tyr124fs) rs1555468920
NM_001042432.2(CLN3):c.750del (p.Gln251fs) rs1064796502
NM_001042432.2(CLN3):c.899del (p.Gln300fs) rs1596556924

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