ClinVar Miner

List of variants in gene combination HGSNAT, LOC130000316 reported by Natera, Inc.

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.63G>A (p.Ala21=) rs549139396 0.00230
NM_152419.3(HGSNAT):c.12G>A (p.Ala4=) rs1018475767 0.00061
NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys) rs867446205 0.00035
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=) rs886062952 0.00031
NM_152419.3(HGSNAT):c.32T>C (p.Leu11Pro) rs1025643467 0.00010
NM_152419.3(HGSNAT):c.110C>T (p.Pro37Leu) rs1465935790 0.00001
NM_152419.3(HGSNAT):c.39G>C (p.Leu13=) rs1335563220 0.00001
NM_152419.3(HGSNAT):c.60C>T (p.Ala20=) rs1251787808 0.00001
NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup) rs961025173
NM_152419.3(HGSNAT):c.89G>A (p.Gly30Glu) rs1490698793

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