ClinVar Miner

List of variants in gene GALNS reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270 0.00173
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr) rs142822371 0.00093
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg) rs138555898 0.00034
NM_000512.5(GALNS):c.899-6T>C rs374850312 0.00014
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg) rs371459975 0.00006
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln) rs140162658 0.00006
NM_000512.5(GALNS):c.833C>T (p.Ala278Val) rs141544939 0.00005
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu) rs371429653 0.00002
NM_000512.5(GALNS):c.1176G>A (p.Ala392=) rs398123431 0.00001
NM_000512.5(GALNS):c.1219A>C (p.Asn407His) rs749578474 0.00001
NM_000512.5(GALNS):c.1520G>T (p.Cys507Phe) rs398123433 0.00001
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg) rs398123434 0.00001
NM_000512.5(GALNS):c.281G>A (p.Arg94His) rs727503946 0.00001
NM_000512.5(GALNS):c.947G>A (p.Gly316Glu) rs1057518404 0.00001
NM_000512.5(GALNS):c.1003-10T>G rs753249472
NM_000512.5(GALNS):c.1113C>T (p.Thr371=) rs375098009
NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del) rs1567519221
NM_000512.5(GALNS):c.1270G>A (p.Val424Ile)
NM_000512.5(GALNS):c.1315C>T (p.Pro439Ser) rs1910357740
NM_000512.5(GALNS):c.1354T>A (p.Phe452Ile) rs398123432
NM_000512.5(GALNS):c.1513G>A (p.Gly505Arg) rs761539025
NM_000512.5(GALNS):c.218A>G (p.Tyr73Cys) rs398123435
NM_000512.5(GALNS):c.266G>T (p.Gly89Val) rs398123436
NM_000512.5(GALNS):c.319+15G>T rs777179922
NM_000512.5(GALNS):c.569A>G (p.Tyr190Cys) rs886042058
NM_000512.5(GALNS):c.707A>G (p.His236Arg) rs398123441
NM_000512.5(GALNS):c.829G>A (p.Val277Ile) rs1911999994

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