ClinVar Miner

List of variants in gene GALNT3 reported by OMIM

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004482.4(GALNT3):c.484C>T (p.Arg162Ter) rs137853086 0.00021
NM_004482.4(GALNT3):c.516-2A>T rs761396172 0.00013
NM_004482.4(GALNT3):c.1524+5G>A rs375879489 0.00006
NM_004482.4(GALNT3):c.815C>A (p.Thr272Lys) rs137853090 0.00003
NM_004482.4(GALNT3):c.1774C>T (p.Gln592Ter) rs137853087 0.00001
NM_004482.4(GALNT3):c.803dup (p.Thr269fs) rs766750282 0.00001
NM_004482.4(GALNT3):c.1076C>A (p.Thr359Lys) rs137853091
NM_004482.4(GALNT3):c.1441C>T (p.Gln481Ter) rs137853089
NM_004482.4(GALNT3):c.1524+1G>A rs745655924
NM_004482.4(GALNT3):c.1626+1G>A rs760830864
NM_004482.4(GALNT3):c.1720T>G (p.Cys574Gly) rs267606841
NM_004482.4(GALNT3):c.677del (p.Ala226fs) rs786205250
NM_004482.4(GALNT3):c.966T>G (p.Tyr322Ter) rs137853088

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