ClinVar Miner

List of variants in gene CHST14 reported as likely benign for congenital limb malformation

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_130468.4(CHST14):c.993C>A (p.Ala331=) rs138273557 0.00022
NM_130468.4(CHST14):c.471G>A (p.Val157=) rs200761477 0.00018
NM_130468.4(CHST14):c.765C>T (p.Gly255=) rs148053059 0.00014
NM_130468.4(CHST14):c.447C>T (p.Phe149=) rs761965484 0.00006
NM_130468.4(CHST14):c.1119G>A (p.Ala373=) rs149555952 0.00005
NM_130468.4(CHST14):c.315G>A (p.Arg105=) rs903042632 0.00004
NM_130468.4(CHST14):c.891C>G (p.Gly297=) rs772809123 0.00004
NM_130468.4(CHST14):c.252C>T (p.Arg84=) rs1377145039 0.00002
NM_130468.4(CHST14):c.861G>A (p.Gln287=) rs772452727 0.00002
NM_130468.4(CHST14):c.189C>T (p.Gly63=) rs1398111943 0.00001
NM_130468.4(CHST14):c.198C>G (p.Ala66=) rs1014902072 0.00001
NM_130468.4(CHST14):c.217C>T (p.Leu73=) rs1482604204 0.00001
NM_130468.4(CHST14):c.297C>T (p.Asp99=) rs1328842726 0.00001
NM_130468.4(CHST14):c.378C>G (p.Pro126=) rs752221539 0.00001
NM_130468.4(CHST14):c.580C>T (p.Leu194=) rs1310579126 0.00001
NM_130468.4(CHST14):c.582G>A (p.Leu194=) rs1377861803 0.00001
NM_130468.4(CHST14):c.642G>A (p.Glu214=) rs146662235 0.00001
NM_130468.4(CHST14):c.732G>C (p.Arg244=) rs1208945086 0.00001
NM_130468.4(CHST14):c.801G>C (p.Leu267=) rs998708059 0.00001
NM_130468.4(CHST14):c.822C>G (p.Arg274=) rs111456654 0.00001
NM_130468.4(CHST14):c.843C>T (p.Pro281=) rs778120798 0.00001
NM_130468.4(CHST14):c.978C>T (p.Ala326=) rs576061822 0.00001
NM_130468.4(CHST14):c.1038C>T (p.Ala346=)
NM_130468.4(CHST14):c.1062G>A (p.Lys354=)
NM_130468.4(CHST14):c.1086T>C (p.Phe362=) rs2141571343
NM_130468.4(CHST14):c.1101T>C (p.Pro367=) rs1189242847
NM_130468.4(CHST14):c.1104T>C (p.Asn368=) rs1351942431
NM_130468.4(CHST14):c.216C>T (p.Pro72=)
NM_130468.4(CHST14):c.228C>A (p.Pro76=)
NM_130468.4(CHST14):c.234C>G (p.Arg78=)
NM_130468.4(CHST14):c.255G>A (p.Gly85=) rs2141570543
NM_130468.4(CHST14):c.303C>T (p.Asp101=) rs2141570597
NM_130468.4(CHST14):c.312G>T (p.Val104=)
NM_130468.4(CHST14):c.315G>T (p.Arg105=)
NM_130468.4(CHST14):c.336C>G (p.Thr112=)
NM_130468.4(CHST14):c.409C>T (p.Leu137=) rs2141570724
NM_130468.4(CHST14):c.462C>T (p.Val154=) rs1478974228
NM_130468.4(CHST14):c.513C>T (p.Gly171=)
NM_130468.4(CHST14):c.516C>T (p.Val172=)
NM_130468.4(CHST14):c.609G>T (p.Leu203=) rs2141570922
NM_130468.4(CHST14):c.651A>G (p.Glu217=)
NM_130468.4(CHST14):c.681T>C (p.Phe227=)
NM_130468.4(CHST14):c.714G>C (p.Gly238=)
NM_130468.4(CHST14):c.747G>T (p.Ala249=)
NM_130468.4(CHST14):c.750G>T (p.Gly250=) rs1402353708
NM_130468.4(CHST14):c.834T>C (p.His278=)
NM_130468.4(CHST14):c.846G>A (p.Val282=)
NM_130468.4(CHST14):c.846G>C (p.Val282=) rs139191820
NM_130468.4(CHST14):c.849C>T (p.Tyr283=) rs1438289059
NM_130468.4(CHST14):c.948A>G (p.Pro316=)
NM_130468.4(CHST14):c.984C>T (p.Tyr328=) rs747403269
NM_130468.4(CHST14):c.999C>T (p.Pro333=)

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