ClinVar Miner

List of variants in gene GALC reported as benign by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Gene type:
ClinVar version:
Total variants: 20
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NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.1350C>T (p.Ser450=) rs398076
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000153.4(GALC):c.1620A>G (p.Thr540=) rs367327
NM_000153.4(GALC):c.1671-15C>T rs12432149
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607
NM_000153.4(GALC):c.1698A>T (p.Val566=) rs421466
NM_000153.4(GALC):c.1834+5C>G rs448805
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala) rs421262
NM_000153.4(GALC):c.328+19T>A rs74337989
NM_000153.4(GALC):c.330C>T (p.Asp110=) rs11552556
NM_000153.4(GALC):c.397T>C (p.Leu133=) rs56194647
NM_000153.4(GALC):c.42G>C (p.Ala14=) rs112992946
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) rs1805078
NM_000153.4(GALC):c.61G>C (p.Ala21Pro) rs111887056
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748
NM_000153.4(GALC):c.75C>A (p.Gly25=) rs111976362
NM_000153.4(GALC):c.913A>G (p.Ile305Val) rs74887188
NM_000153.4(GALC):c.96G>T (p.Leu32=) rs113719127
NM_000153.4(GALC):c.984G>A (p.Gln328=) rs12888666

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