ClinVar Miner

List of variants in gene GALC reported as benign by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.1698A>T (p.Val566=) rs421466 0.95773
NM_000153.4(GALC):c.1620A>G (p.Thr540=) rs367327 0.95611
NM_000153.4(GALC):c.1834+5C>G rs448805 0.95475
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala) rs421262 0.95462
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49946
NM_000153.4(GALC):c.1671-15C>T rs12432149 0.45011
NM_000153.4(GALC):c.1350C>T (p.Ser450=) rs398076 0.39907
NM_000153.4(GALC):c.984G>A (p.Gln328=) rs12888666 0.29819
NM_000153.4(GALC):c.328+19T>A rs74337989 0.12002
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748 0.11424
NM_000153.4(GALC):c.42G>C (p.Ala14=) rs112992946 0.11300
NM_000153.4(GALC):c.61G>C (p.Ala21Pro) rs111887056 0.11296
NM_000153.4(GALC):c.75C>A (p.Gly25=) rs111976362 0.11287
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) rs1805078 0.03877
NM_000153.4(GALC):c.330C>T (p.Asp110=) rs11552556 0.03162
NM_000153.4(GALC):c.397T>C (p.Leu133=) rs56194647 0.02565
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328 0.00483
NM_000153.4(GALC):c.96G>T (p.Leu32=) rs113719127 0.00324
NM_000153.4(GALC):c.913A>G (p.Ile305Val) rs74887188 0.00270
NM_000153.4(GALC):c.1162-4del rs11300320

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