ClinVar Miner

List of variants in gene GALNS, LOC126862447 studied for mucopolysaccharidosis

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 74
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.1431G>A (p.Glu477=) rs2303271 0.40780
NM_000512.5(GALNS):c.1376C>T (p.Ala459Val) rs114703967 0.03559
NM_000512.5(GALNS):c.1413C>T (p.Val471=) rs73251084 0.01159
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605 0.00596
NM_000512.5(GALNS):c.1443C>T (p.Pro481=) rs147536058 0.00336
NM_000512.5(GALNS):c.1462G>A (p.Val488Met) rs78127134 0.00140
NM_000512.5(GALNS):c.1482+4A>G rs377407678 0.00026
NM_000512.5(GALNS):c.1414G>A (p.Val472Ile) rs147290567 0.00013
NM_000512.5(GALNS):c.1375G>A (p.Ala459Thr) rs750739641 0.00009
NM_000512.5(GALNS):c.1409C>T (p.Ser470Leu) rs760260706 0.00004
NM_000512.5(GALNS):c.1475C>T (p.Ala492Val) rs141171091 0.00004
NM_000512.5(GALNS):c.1365-20C>T rs1044328485 0.00003
NM_000512.5(GALNS):c.1374C>T (p.Ser458=) rs534204869 0.00003
NM_000512.5(GALNS):c.1476G>A (p.Ala492=) rs371056948 0.00002
NM_000512.5(GALNS):c.1377C>T (p.Ala459=) rs757704061 0.00001
NM_000512.5(GALNS):c.1441C>T (p.Pro481Ser) rs781512359 0.00001
NM_000512.5(GALNS):c.1445C>T (p.Ala482Val) rs1909820489 0.00001
NM_000512.5(GALNS):c.1461C>T (p.Asn487=) rs1273463889 0.00001
NM_000512.5(GALNS):c.1471T>C (p.Trp491Arg) rs753344649 0.00001
NM_000512.5(GALNS):c.1480A>G (p.Met494Val) rs1401175486 0.00001
NC_000016.10:g.(?_88813734)_(88841972_88842705)del
NM_000512.5(GALNS):c.1365-10C>T
NM_000512.5(GALNS):c.1365-14CT[2]
NM_000512.5(GALNS):c.1365-17G>C
NM_000512.5(GALNS):c.1365-19C>T
NM_000512.5(GALNS):c.1365-1G>A rs1909832718
NM_000512.5(GALNS):c.1365-1G>C rs1909832718
NM_000512.5(GALNS):c.1365-20C>G
NM_000512.5(GALNS):c.1365-2A>G
NM_000512.5(GALNS):c.1365-4C>G rs558654277
NM_000512.5(GALNS):c.1365-9T>C
NM_000512.5(GALNS):c.1374dup (p.Ala459fs)
NM_000512.5(GALNS):c.1383C>A (p.Tyr461Ter)
NM_000512.5(GALNS):c.1387G>T (p.Glu463Ter)
NM_000512.5(GALNS):c.1392C>A (p.Ala464=)
NM_000512.5(GALNS):c.1398C>T (p.Ser466=)
NM_000512.5(GALNS):c.1401_1422dup (p.His475fs)
NM_000512.5(GALNS):c.1407C>G (p.Thr469=)
NM_000512.5(GALNS):c.1407C>T (p.Thr469=)
NM_000512.5(GALNS):c.1408T>C (p.Ser470Pro) rs2142982603
NM_000512.5(GALNS):c.1410G>A (p.Ser470=) rs763263800
NM_000512.5(GALNS):c.1410G>C (p.Ser470=) rs763263800
NM_000512.5(GALNS):c.1410G>T (p.Ser470=) rs763263800
NM_000512.5(GALNS):c.1417C>T (p.Gln473Ter) rs118204439
NM_000512.5(GALNS):c.1418A>G (p.Gln473Arg) rs1909825123
NM_000512.5(GALNS):c.1420C>T (p.Gln474Ter) rs1330564240
NM_000512.5(GALNS):c.1422G>A (p.Gln474=)
NM_000512.5(GALNS):c.1423C>A (p.His475Asn) rs749297663
NM_000512.5(GALNS):c.1427A>C (p.Gln476Pro) rs1597524240
NM_000512.5(GALNS):c.1429_1455del (p.Glu477_Gln485del) rs1909818289
NM_000512.5(GALNS):c.1434C>T (p.Ala478=)
NM_000512.5(GALNS):c.1440C>G (p.Val480=)
NM_000512.5(GALNS):c.1440C>T (p.Val480=)
NM_000512.5(GALNS):c.1446G>A (p.Ala482=)
NM_000512.5(GALNS):c.1447C>T (p.Gln483Ter) rs2142982313
NM_000512.5(GALNS):c.1450C>T (p.Pro484Ser) rs1204485789
NM_000512.5(GALNS):c.1451C>T (p.Pro484Leu) rs1482155729
NM_000512.5(GALNS):c.1458C>T (p.Leu486=)
NM_000512.5(GALNS):c.1459A>T (p.Asn487Tyr)
NM_000512.5(GALNS):c.1460A>G (p.Asn487Ser) rs118204440
NM_000512.5(GALNS):c.1460A>T (p.Asn487Ile) rs118204440
NM_000512.5(GALNS):c.1461C>A (p.Asn487Lys) rs1273463889
NM_000512.5(GALNS):c.1464G>A (p.Val488=)
NM_000512.5(GALNS):c.1467C>T (p.Cys489=)
NM_000512.5(GALNS):c.1473G>A (p.Trp491Ter)
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000512.5(GALNS):c.1480dup (p.Met494fs)
NM_000512.5(GALNS):c.1481T>C (p.Met494Thr) rs2142982062
NM_000512.5(GALNS):c.1482+1G>A rs2142982054
NM_000512.5(GALNS):c.1482+2T>C
NM_000512.5(GALNS):c.1482+5G>A rs2142982032
NM_000512.5(GALNS):c.1482+5G>C
NM_000512.5(GALNS):c.1482+7G>T
NM_000512.5(GALNS):c.1482+9C>T

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