ClinVar Miner

List of variants in gene GALC reported as likely benign by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.1788C>T (p.Phe596=) rs115018138 0.00658
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328 0.00483
NM_000153.4(GALC):c.1006G>A (p.Val336Met) rs185073540 0.00368
NM_000153.4(GALC):c.96G>T (p.Leu32=) rs113719127 0.00324
NM_000153.4(GALC):c.-463C>T rs181956126 0.00254
NM_000153.4(GALC):c.15A>G (p.Leu5=) rs529350155 0.00088
NM_000153.4(GALC):c.1434G>A (p.Pro478=) rs200231860 0.00042
NM_000153.4(GALC):c.1731C>T (p.Phe577=) rs201560122 0.00006
NM_000153.4(GALC):c.114G>T (p.Ala38=) rs749514611 0.00001
NM_000153.4(GALC):c.81C>T (p.Ala27=) rs759433028 0.00001
NM_000153.4(GALC):c.970T>C (p.Leu324=) rs1194954694 0.00001
NM_000153.4(GALC):c.117C>G (p.Pro39=) rs962360205

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