ClinVar Miner

Variants in gene ATL1 with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_015915.5(ATL1):c.622C>T (p.Pro208Ser) rs147839037 0.00002
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp) rs864622269 0.00001
NM_015915.5(ATL1):c.1040T>C (p.Met347Thr) rs1595620366
NM_015915.5(ATL1):c.1222A>G (p.Met408Val) rs28939094
NM_015915.5(ATL1):c.1226G>A (p.Gly409Asp) rs2039539644
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_015915.5(ATL1):c.1244G>A (p.Arg415Gln) rs397514712
NM_015915.5(ATL1):c.1306A>G (p.Asn436Asp) rs2140239163
NM_015915.5(ATL1):c.1306_1308del (p.Asn436del) rs1595625206
NM_015915.5(ATL1):c.1519dup (p.Ile507fs) rs863223314
NM_015915.5(ATL1):c.488T>C (p.Val163Ala) rs1595600383
NM_015915.5(ATL1):c.751C>A (p.Gln251Lys) rs1595615134
NM_015915.5(ATL1):c.757G>A (p.Val253Ile) rs864622520
NM_015915.5(ATL1):c.776C>T (p.Ser259Phe) rs119476047

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