ClinVar Miner

List of variants in gene CHST14 reported as not provided for congenital limb malformation

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_130468.4(CHST14):c.638G>C (p.Arg213Pro) rs121908257 0.00001
NM_130468.4(CHST14):c.878A>G (p.Tyr293Cys) rs121908258 0.00001
NM_130468.4(CHST14):c.1033C>T (p.Arg345Trp) rs372422727

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