ClinVar Miner

List of variants in gene GAL studied for autosomal dominant epilepsy with auditory features

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_015973.5(GAL):c.301+16T>C rs3136540 0.71485
NM_015973.5(GAL):c.*15T>C rs1042577 0.61580
NM_015973.5(GAL):c.47C>T (p.Ala16Val) rs34725707 0.00793
NM_015973.5(GAL):c.364C>T (p.Arg122Trp) rs36058701 0.00787
NM_015973.5(GAL):c.361G>A (p.Glu121Lys) rs139127322 0.00377
NM_015973.5(GAL):c.253A>G (p.Asn85Asp) rs145825008 0.00131
NM_015973.5(GAL):c.306C>T (p.Ala102=) rs147122838 0.00049
NM_015973.5(GAL):c.66G>A (p.Ala22=) rs542684427 0.00013
NM_015973.5(GAL):c.199C>T (p.Arg67Trp) rs200075890 0.00011
NM_015973.5(GAL):c.339C>T (p.Ala113=) rs147742577 0.00011
NM_015973.5(GAL):c.166G>A (p.Asp56Asn) rs149894151 0.00010
NM_015973.5(GAL):c.137-2A>G rs762777313 0.00009
NM_015973.5(GAL):c.140C>T (p.Ala47Val) rs374472664 0.00007
NM_015973.5(GAL):c.141C>T (p.Ala47=) rs367644530 0.00007
NM_015973.5(GAL):c.368C>T (p.Ser123Phe) rs747411981 0.00007
NM_015973.5(GAL):c.43G>A (p.Ala15Thr) rs753843211 0.00007
NM_015973.5(GAL):c.142G>A (p.Val48Ile) rs541536020 0.00006
NM_015973.5(GAL):c.200G>C (p.Arg67Pro) rs768058377 0.00005
NM_015973.5(GAL):c.216G>A (p.Met72Ile) rs375393105 0.00005
NM_015973.5(GAL):c.223+3G>A rs202155593 0.00004
NM_015973.5(GAL):c.77C>T (p.Ser26Leu) rs201644659 0.00004
NM_015973.5(GAL):c.205G>A (p.Glu69Lys) rs571107777 0.00002
NM_015973.5(GAL):c.365G>A (p.Arg122Gln) rs777842785 0.00002
NM_015973.5(GAL):c.13A>G (p.Ser5Gly) rs749996027 0.00001
NM_015973.5(GAL):c.147C>G (p.Gly49=) rs1238139750 0.00001
NM_015973.5(GAL):c.178C>T (p.Leu60Phe) rs527905700 0.00001
NM_015973.5(GAL):c.191G>A (p.Arg64Gln) rs372372622 0.00001
NM_015973.5(GAL):c.263G>A (p.Arg88His) rs778530092 0.00001
NM_015973.5(GAL):c.28G>A (p.Ala10Thr) rs766211433 0.00001
NM_015973.5(GAL):c.309T>A (p.Gly103=) rs768790714 0.00001
NM_015973.5(GAL):c.337G>A (p.Ala113Thr) rs762637870 0.00001
NM_015973.5(GAL):c.340G>A (p.Ala114Thr) rs540782765 0.00001
NM_015973.5(GAL):c.81+12G>A rs1338973790 0.00001
NC_000011.10:g.(?_68684904)_(68691007_?)dup
NC_000011.9:g.(?_68453042)_(68453136_?)del
NM_015973.3(GAL):c.82del rs1594273885
NM_015973.5(GAL):c.106C>T (p.Leu36=) rs528520052
NM_015973.5(GAL):c.116C>A (p.Ala39Glu) rs1057517661
NM_015973.5(GAL):c.16G>A (p.Ala6Thr) rs760551954
NM_015973.5(GAL):c.177C>G (p.Gly59=) rs533111349
NM_015973.5(GAL):c.202C>T (p.Pro68Ser) rs1945870960
NM_015973.5(GAL):c.223+3G>C rs202155593
NM_015973.5(GAL):c.263G>T (p.Arg88Leu) rs778530092
NM_015973.5(GAL):c.311C>T (p.Ala104Val) rs1186237607
NM_015973.5(GAL):c.316G>A (p.Asp106Asn) rs375918368
NM_015973.5(GAL):c.335C>G (p.Pro112Arg) rs1945899167
NM_015973.5(GAL):c.37C>T (p.Leu13Phe) rs956379887
NM_015973.5(GAL):c.42C>T (p.Leu14=) rs1457970164
NM_015973.5(GAL):c.55T>C (p.Ser19Pro) rs746008445
NM_015973.5(GAL):c.73_81+37del rs1297993483
NM_015973.5(GAL):c.7C>T (p.Arg3Ter) rs578193461
NM_015973.5(GAL):c.81+8C>T rs1945837611
NM_015973.5(GAL):c.91A>G (p.Lys31Glu) rs1945844204
NM_015973.5(GAL):c.9A>C (p.Arg3=) rs539085763

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