ClinVar Miner

List of variants in gene GALK1 reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP
NM_000154.2(GALK1):c.*32C>T rs116845474
NM_000154.2(GALK1):c.1005G>T (p.Val335=)
NM_000154.2(GALK1):c.1011G>C (p.Gly337=)
NM_000154.2(GALK1):c.1035C>T (p.Gly345=) rs576223041
NM_000154.2(GALK1):c.1044C>T (p.Phe348=) rs372653001
NM_000154.2(GALK1):c.105G>C (p.Pro35=)
NM_000154.2(GALK1):c.1077C>T (p.Ser359=) rs376050836
NM_000154.2(GALK1):c.1089C>T (p.His363=) rs200502537
NM_000154.2(GALK1):c.10T>C (p.Leu4=)
NM_000154.2(GALK1):c.1101C>T (p.His367=) rs1436958552
NM_000154.2(GALK1):c.1107+5G>A rs201663491
NM_000154.2(GALK1):c.1107+7G>A
NM_000154.2(GALK1):c.1107+9G>A
NM_000154.2(GALK1):c.1116C>T (p.Tyr372=) rs763195503
NM_000154.2(GALK1):c.1131C>T (p.Thr377=)
NM_000154.2(GALK1):c.1152C>T (p.Ala384=)
NM_000154.2(GALK1):c.1155T>C (p.Asp385=)
NM_000154.2(GALK1):c.117C>T (p.Asn39=) rs1599336904
NM_000154.2(GALK1):c.147G>A (p.Gln49=)
NM_000154.2(GALK1):c.150C>T (p.Gly50=) rs1599336859
NM_000154.2(GALK1):c.153G>T (p.Leu51=)
NM_000154.2(GALK1):c.157C>T (p.Leu53=)
NM_000154.2(GALK1):c.166-10C>T
NM_000154.2(GALK1):c.166-6dup
NM_000154.2(GALK1):c.171G>A (p.Leu57=) rs779604073
NM_000154.2(GALK1):c.187C>T (p.Leu63=) rs1555748724
NM_000154.2(GALK1):c.195C>T (p.Gly65=) rs1301639431
NM_000154.2(GALK1):c.216G>A (p.Leu72=)
NM_000154.2(GALK1):c.231C>A (p.Thr77=)
NM_000154.2(GALK1):c.255C>T (p.Pro85=)
NM_000154.2(GALK1):c.273A>G (p.Pro91=)
NM_000154.2(GALK1):c.291C>G (p.Arg97=) rs368542855
NM_000154.2(GALK1):c.294G>T (p.Ser98=) rs766656571
NM_000154.2(GALK1):c.297G>A (p.Leu99=)
NM_000154.2(GALK1):c.300G>A (p.Glu100=)
NM_000154.2(GALK1):c.30G>T (p.Ala10=) rs1174194549
NM_000154.2(GALK1):c.336A>G (p.Gly112=)
NM_000154.2(GALK1):c.345G>A (p.Gln115=)
NM_000154.2(GALK1):c.351C>T (p.Tyr117=)
NM_000154.2(GALK1):c.363C>A (p.Pro121=) rs779234943
NM_000154.2(GALK1):c.369T>C (p.Pro123=)
NM_000154.2(GALK1):c.372C>A (p.Gly124=)
NM_000154.2(GALK1):c.396A>C (p.Ser132=) rs766401384
NM_000154.2(GALK1):c.408G>A (p.Gly136=)
NM_000154.2(GALK1):c.417G>A (p.Leu139=)
NM_000154.2(GALK1):c.417G>C (p.Leu139=)
NM_000154.2(GALK1):c.42C>T (p.Ala14=)
NM_000154.2(GALK1):c.432C>T (p.Ser144=) rs150323432
NM_000154.2(GALK1):c.441G>A (p.Val147=)
NM_000154.2(GALK1):c.447G>A (p.Thr149=) rs765744088
NM_000154.2(GALK1):c.475+7G>C
NM_000154.2(GALK1):c.489A>T (p.Ile163=)
NM_000154.2(GALK1):c.495C>T (p.Ala165=)
NM_000154.2(GALK1):c.498C>T (p.Arg166=)
NM_000154.2(GALK1):c.519C>G (p.Ala173=) rs141983398
NM_000154.2(GALK1):c.519C>T (p.Ala173=)
NM_000154.2(GALK1):c.531C>T (p.Phe177=)
NM_000154.2(GALK1):c.537G>A (p.Gly179=)
NM_000154.2(GALK1):c.573T>C (p.Leu191=)
NM_000154.2(GALK1):c.591C>T (p.His197=)
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000154.2(GALK1):c.594G>A (p.Ala198=)
NM_000154.2(GALK1):c.594G>C (p.Ala198=)
NM_000154.2(GALK1):c.60C>T (p.Phe20=) rs556192480
NM_000154.2(GALK1):c.611+9C>T rs370204015
NM_000154.2(GALK1):c.612-4C>G
NM_000154.2(GALK1):c.645C>T (p.Asp215=)
NM_000154.2(GALK1):c.654G>A (p.Leu218=)
NM_000154.2(GALK1):c.657C>T (p.Ala219=) rs754593748
NM_000154.2(GALK1):c.660G>A (p.Val220=)
NM_000154.2(GALK1):c.660G>C (p.Val220=)
NM_000154.2(GALK1):c.663C>T (p.Leu221=)
NM_000154.2(GALK1):c.66G>A (p.Glu22=) rs367558510
NM_000154.2(GALK1):c.746C>T (p.Ala249Val) rs149825190
NM_000154.2(GALK1):c.747G>A (p.Ala249=) rs140053358
NM_000154.2(GALK1):c.748C>T (p.Leu250=) rs904702679
NM_000154.2(GALK1):c.765C>T (p.Leu255=)
NM_000154.2(GALK1):c.771G>A (p.Glu257=) rs764099539
NM_000154.2(GALK1):c.780G>A (p.Leu260=)
NM_000154.2(GALK1):c.787C>T (p.Leu263=) rs886053420
NM_000154.2(GALK1):c.794-6C>T
NM_000154.2(GALK1):c.81G>A (p.Glu27=)
NM_000154.2(GALK1):c.829C>A (p.Arg277=)
NM_000154.2(GALK1):c.857G>A (p.Arg286Gln) rs145641205
NM_000154.2(GALK1):c.858G>A (p.Arg286=) rs1349483506
NM_000154.2(GALK1):c.864G>A (p.Thr288=)
NM_000154.2(GALK1):c.876G>A (p.Ala292=)
NM_000154.2(GALK1):c.900C>T (p.Tyr300=)
NM_000154.2(GALK1):c.909T>C (p.Phe303=)
NM_000154.2(GALK1):c.915C>T (p.Arg305=)
NM_000154.2(GALK1):c.935G>A (p.Arg312His) rs181526665
NM_000154.2(GALK1):c.93C>G (p.Ala31=)
NM_000154.2(GALK1):c.93C>T (p.Ala31=)
NM_000154.2(GALK1):c.945-4G>A
NM_000154.2(GALK1):c.948C>T (p.Asp316=) rs370706611
NM_000154.2(GALK1):c.966C>T (p.Cys322=)
NM_000154.2(GALK1):c.975G>A (p.Leu325=) rs1247403138
NM_000154.2(GALK1):c.975G>T (p.Leu325=) rs1247403138
NM_000154.2(GALK1):c.982C>T (p.Leu328=)
NM_000154.2(GALK1):c.987G>A (p.Val329=) rs184160171

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