ClinVar Miner

List of variants in gene ATL1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_015915.5(ATL1):c.669C>T (p.Tyr223=) rs146975855 0.00059
NM_015915.5(ATL1):c.1173C>T (p.His391=) rs149340140 0.00013
NM_015915.5(ATL1):c.417+3A>G rs200310890 0.00009
NM_015915.5(ATL1):c.311A>G (p.Asn104Ser) rs377736535 0.00004
NM_015915.5(ATL1):c.688G>A (p.Asp230Asn) rs768367744 0.00002
NM_015915.5(ATL1):c.922G>A (p.Glu308Lys) rs773401705 0.00001
NM_015915.5(ATL1):c.*87C>G
NM_015915.5(ATL1):c.1055C>A (p.Ala352Glu) rs1595621310
NM_015915.5(ATL1):c.1212G>A (p.Gly404=)
NM_015915.5(ATL1):c.1226G>A (p.Gly409Asp) rs2039539644
NM_015915.5(ATL1):c.1242C>G (p.Ser414Arg) rs773943141
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_015915.5(ATL1):c.1269T>G (p.Ser423Arg)
NM_015915.5(ATL1):c.1308T>A (p.Asn436Lys) rs751796325
NM_015915.5(ATL1):c.1556G>C (p.Ser519Thr) rs751861796
NM_015915.5(ATL1):c.208G>T (p.Val70Leu)
NM_015915.5(ATL1):c.417+4T>A
NM_015915.5(ATL1):c.439A>T (p.Thr147Ser)
NM_015915.5(ATL1):c.486A>G (p.Thr162=)
NM_015915.5(ATL1):c.543T>A (p.Asn181Lys) rs2039187516
NM_015915.5(ATL1):c.547C>G (p.Gln183Glu) rs1566724990
NM_015915.5(ATL1):c.564G>T (p.Gln188His) rs2039187692
NM_015915.5(ATL1):c.630+6C>T
NM_015915.5(ATL1):c.650G>A (p.Arg217Gln) rs119476049
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_015915.5(ATL1):c.757G>A (p.Val253Ile) rs864622520
NM_015915.5(ATL1):c.944T>G (p.Ile315Ser) rs1033998490
NM_015915.5(ATL1):c.991G>T (p.Ala331Ser) rs1175428745

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