ClinVar Miner

List of variants in gene ATL1 reported by Ambry Genetics

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Gene type:
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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_015915.5(ATL1):c.693T>C (p.Gly231=) rs139720661 0.00790
NM_015915.5(ATL1):c.1230G>A (p.Gly410=) rs148548325 0.00531
NM_015915.5(ATL1):c.621G>A (p.Lys207=) rs35629585 0.00263
NM_015915.5(ATL1):c.1200G>A (p.Lys400=) rs144792471 0.00060
NM_015915.5(ATL1):c.669C>T (p.Tyr223=) rs146975855 0.00059
NM_015915.5(ATL1):c.991-6T>G rs192428744 0.00016
NM_015915.5(ATL1):c.1152A>G (p.Pro384=) rs377127492 0.00014
NM_015915.5(ATL1):c.1173C>T (p.His391=) rs149340140 0.00013
NM_015915.5(ATL1):c.306C>A (p.Asp102Glu) rs145204580 0.00010
NM_015915.5(ATL1):c.322A>G (p.Thr108Ala) rs112496709 0.00009
NM_015915.5(ATL1):c.1078G>A (p.Val360Met) rs373267047 0.00006
NM_015915.5(ATL1):c.990+4T>A rs372029461 0.00006
NM_015915.5(ATL1):c.176C>T (p.Ser59Leu) rs1278783412 0.00004
NM_015915.5(ATL1):c.969G>C (p.Arg323=) rs753145983 0.00004
NM_015915.5(ATL1):c.388T>C (p.Phe130Leu) rs769581129 0.00002
NM_015915.5(ATL1):c.44C>T (p.Ser15Leu) rs772206990 0.00002
NM_015915.5(ATL1):c.622C>T (p.Pro208Ser) rs147839037 0.00002
NM_015915.5(ATL1):c.686C>G (p.Ala229Gly) rs1454376300 0.00002
NM_015915.5(ATL1):c.688G>A (p.Asp230Asn) rs768367744 0.00002
NM_015915.5(ATL1):c.701A>G (p.Lys234Arg) rs371579681 0.00002
NM_015915.5(ATL1):c.756C>T (p.Asn252=) rs771031586 0.00002
NM_015915.5(ATL1):c.1105A>C (p.Lys369Gln) rs1057524242 0.00001
NM_015915.5(ATL1):c.1246C>T (p.Arg416Cys) rs387906941 0.00001
NM_015915.5(ATL1):c.1247G>A (p.Arg416His) rs1395551564 0.00001
NM_015915.5(ATL1):c.1360G>C (p.Val454Leu) rs370748757 0.00001
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp) rs864622269 0.00001
NM_015915.5(ATL1):c.1623T>G (p.Ala541=) rs777479928 0.00001
NM_015915.5(ATL1):c.1641G>A (p.Ser547=) rs761099386 0.00001
NM_015915.5(ATL1):c.300T>G (p.Val100=) rs863224772 0.00001
NM_015915.5(ATL1):c.630+3G>A rs746263796 0.00001
NM_015915.5(ATL1):c.687C>T (p.Ala229=) rs921388034 0.00001
NM_015915.5(ATL1):c.953A>T (p.Asn318Ile) rs770538531 0.00001
NM_015915.5(ATL1):c.1109A>G (p.Lys370Arg)
NM_015915.5(ATL1):c.1220A>T (p.Lys407Met) rs2039539459
NM_015915.5(ATL1):c.1232A>C (p.Glu411Ala)
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_015915.5(ATL1):c.132T>A (p.His44Gln)
NM_015915.5(ATL1):c.147T>G (p.Asp49Glu)
NM_015915.5(ATL1):c.1519A>G (p.Ile507Val) rs2140239435
NM_015915.5(ATL1):c.1572G>C (p.Leu524Phe)
NM_015915.5(ATL1):c.1612T>A (p.Tyr538Asn)
NM_015915.5(ATL1):c.196G>C (p.Glu66Gln) rs200314808
NM_015915.5(ATL1):c.261G>A (p.Met87Ile)
NM_015915.5(ATL1):c.304G>C (p.Asp102His)
NM_015915.5(ATL1):c.308A>G (p.Tyr103Cys)
NM_015915.5(ATL1):c.409G>T (p.Gly137Cys) rs772400647
NM_015915.5(ATL1):c.499A>G (p.Ser167Gly)
NM_015915.5(ATL1):c.574-3T>C
NM_015915.5(ATL1):c.574-6T>C
NM_015915.5(ATL1):c.70G>C (p.Glu24Gln)
NM_015915.5(ATL1):c.75G>C (p.Glu25Asp)
NM_015915.5(ATL1):c.780T>C (p.Cys260=) rs1555365177
NM_015915.5(ATL1):c.788A>G (p.Asn263Ser)
NM_015915.5(ATL1):c.968G>A (p.Arg323Gln)
NM_015915.5(ATL1):c.970G>T (p.Gly324Cys)
NM_015915.5(ATL1):c.991-3dup rs753642042

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