ClinVar Miner

List of variants in gene GALNS reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.269G>A (p.Arg90Gln) rs754731091 0.00003
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser) rs749891007 0.00002
NM_000512.5(GALNS):c.986A>C (p.His329Pro) rs760892654 0.00002
NM_000512.5(GALNS):c.1498G>A (p.Gly500Ser) rs1303492021 0.00001
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg) rs398123434 0.00001
NM_000512.5(GALNS):c.184A>T (p.Met62Leu) rs1367462378 0.00001
NM_000512.5(GALNS):c.338T>C (p.Ile113Thr) rs979373729 0.00001
NM_000512.5(GALNS):c.578A>G (p.Glu193Gly) rs1427663367 0.00001
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu) rs772413313 0.00001
NM_000512.5(GALNS):c.638C>T (p.Ala213Val) rs770239604 0.00001
NM_000512.5(GALNS):c.910G>A (p.Gly304Ser) rs764070268 0.00001
NC_000016.9:g.(?_88884395)_(88884552_?)del
NC_000016.9:g.(?_88893090)_(88904193_?)del
NM_000512.5(GALNS):c.1018G>A (p.Gly340Ser)
NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del) rs1567519221
NM_000512.5(GALNS):c.1196A>C (p.Lys399Thr) rs1267791852
NM_000512.5(GALNS):c.121-7C>G rs1004936255
NM_000512.5(GALNS):c.1242+1G>C
NM_000512.5(GALNS):c.1242+1G>T rs2142993764
NM_000512.5(GALNS):c.1364+2_1364+15del
NM_000512.5(GALNS):c.1487G>C (p.Trp496Ser)
NM_000512.5(GALNS):c.181C>G (p.Arg61Gly) rs145798311
NM_000512.5(GALNS):c.185T>G (p.Met62Arg)
NM_000512.5(GALNS):c.230C>T (p.Pro77Leu)
NM_000512.5(GALNS):c.245-2A>G rs1352162269
NM_000512.5(GALNS):c.286G>T (p.Gly96Cys) rs2143005086
NM_000512.5(GALNS):c.289T>G (p.Phe97Val) rs2143005083
NM_000512.5(GALNS):c.313A>G (p.Arg105Gly) rs2143005072
NM_000512.5(GALNS):c.337A>G (p.Ile113Val)
NM_000512.5(GALNS):c.373C>T (p.Pro125Ser)
NM_000512.5(GALNS):c.374C>A (p.Pro125Gln) rs746949976
NM_000512.5(GALNS):c.422+1G>T rs1966940003
NM_000512.5(GALNS):c.422+2T>G rs2143004585
NM_000512.5(GALNS):c.425A>C (p.His142Pro) rs1288895691
NM_000512.5(GALNS):c.425A>T (p.His142Leu) rs1288895691
NM_000512.5(GALNS):c.464G>A (p.Gly155Glu) rs2143002437
NM_000512.5(GALNS):c.547G>T (p.Asp183Tyr) rs2143002331
NM_000512.5(GALNS):c.566+1G>A
NM_000512.5(GALNS):c.601G>A (p.Gly201Arg)
NM_000512.5(GALNS):c.641T>G (p.Leu214Arg)
NM_000512.5(GALNS):c.648C>G (p.Phe216Leu) rs2143001453
NM_000512.5(GALNS):c.679T>G (p.Phe227Val) rs2143001417
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr) rs368603508
NM_000512.5(GALNS):c.700G>T (p.Ala234Ser)
NM_000512.5(GALNS):c.716T>G (p.Val239Gly)
NM_000512.5(GALNS):c.851T>G (p.Phe284Cys)
NM_000512.5(GALNS):c.902G>A (p.Gly301Asp) rs776715466
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro) rs2142999202

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