ClinVar Miner

List of variants reported as uncertain significance for Mucopolysaccharidosis, MPS-IV-A by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 102
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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.1482+4A>G rs377407678 0.00026
NM_000512.5(GALNS):c.1078G>A (p.Asp360Asn) rs202031547 0.00018
NM_000512.5(GALNS):c.1375G>A (p.Ala459Thr) rs750739641 0.00009
NM_000512.5(GALNS):c.1364+6T>A rs377120480 0.00006
NM_000512.5(GALNS):c.1475C>T (p.Ala492Val) rs141171091 0.00004
NM_000512.5(GALNS):c.715G>A (p.Val239Ile) rs145131011 0.00004
NM_000512.5(GALNS):c.832G>A (p.Ala278Thr) rs377591464 0.00004
NM_000512.5(GALNS):c.1198G>A (p.Ala400Thr) rs2303270 0.00003
NM_000512.5(GALNS):c.1238G>A (p.Arg413Lys) rs374798170 0.00003
NM_000512.5(GALNS):c.640C>G (p.Leu214Val) rs1424752390 0.00003
NM_000512.5(GALNS):c.709G>A (p.Ala237Thr) rs550139020 0.00003
NM_000512.5(GALNS):c.772G>A (p.Val258Ile) rs779257235 0.00003
NM_000512.5(GALNS):c.1087A>G (p.Ile363Val) rs758802414 0.00002
NM_000512.5(GALNS):c.1100A>G (p.Asn367Ser) rs150111302 0.00002
NM_000512.5(GALNS):c.1540A>G (p.Ile514Val) rs201153945 0.00002
NM_000512.5(GALNS):c.245-11C>T rs552476248 0.00002
NM_000512.5(GALNS):c.304G>A (p.Ala102Thr) rs372585484 0.00002
NM_000512.5(GALNS):c.47T>G (p.Val16Gly) rs794729202 0.00002
NM_000512.5(GALNS):c.664C>T (p.Arg222Trp) rs146963745 0.00002
NM_000512.5(GALNS):c.1067C>T (p.Thr356Met) rs1017572961 0.00001
NM_000512.5(GALNS):c.1105C>T (p.Leu369Phe) rs368784505 0.00001
NM_000512.5(GALNS):c.1126C>T (p.Arg376Trp) rs762690924 0.00001
NM_000512.5(GALNS):c.13G>A (p.Val5Ile) rs1415400985 0.00001
NM_000512.5(GALNS):c.1441C>T (p.Pro481Ser) rs781512359 0.00001
NM_000512.5(GALNS):c.1471T>C (p.Trp491Arg) rs753344649 0.00001
NM_000512.5(GALNS):c.167C>A (p.Thr56Asn) rs1967037775 0.00001
NM_000512.5(GALNS):c.241C>T (p.Pro81Ser) rs765151762 0.00001
NM_000512.5(GALNS):c.251C>T (p.Ala84Val) rs141340188 0.00001
NM_000512.5(GALNS):c.394G>A (p.Gly132Ser) rs766859208 0.00001
NM_000512.5(GALNS):c.66G>T (p.Met22Ile) rs1427287935 0.00001
NM_000512.5(GALNS):c.757C>T (p.Arg253Trp) rs775300515 0.00001
NM_000512.5(GALNS):c.764G>A (p.Gly255Glu) rs1912009292 0.00001
NM_000512.5(GALNS):c.847G>A (p.Val283Ile) rs772097990 0.00001
NM_000512.5(GALNS):c.898+4A>G rs774518058 0.00001
NM_000512.5(GALNS):c.947G>A (p.Gly316Glu) rs1057518404 0.00001
NM_000512.5(GALNS):c.988G>A (p.Val330Ile) rs767856715 0.00001
NC_000016.9:g.(?_88798723)_(88909257_?)dup
NC_000016.9:g.(?_88908285)_(88908399_?)dup
NM_000512.5(GALNS):c.1002+4A>T
NM_000512.5(GALNS):c.1003-10T>G rs753249472
NM_000512.5(GALNS):c.100C>G (p.Leu34Val) rs1352806619
NM_000512.5(GALNS):c.1016T>C (p.Leu339Pro)
NM_000512.5(GALNS):c.1016T>G (p.Leu339Arg) rs1244322663
NM_000512.5(GALNS):c.1024A>T (p.Ile342Phe)
NM_000512.5(GALNS):c.1051G>T (p.Ala351Ser)
NM_000512.5(GALNS):c.1055T>C (p.Leu352Pro) rs2142995830
NM_000512.5(GALNS):c.1058C>T (p.Ala353Val) rs774113183
NM_000512.5(GALNS):c.112A>C (p.Met38Leu) rs1306083557
NM_000512.5(GALNS):c.1139G>A (p.Arg380Lys)
NM_000512.5(GALNS):c.1160G>A (p.Gly387Asp)
NM_000512.5(GALNS):c.1166C>T (p.Thr389Met)
NM_000512.5(GALNS):c.1183C>G (p.Leu395Val) rs767701478
NM_000512.5(GALNS):c.120+4A>G rs1213209894
NM_000512.5(GALNS):c.1207TGGACC[1] (p.403WT[1]) rs1567519128
NM_000512.5(GALNS):c.1210A>C (p.Thr404Pro) rs2142993800
NM_000512.5(GALNS):c.1262G>A (p.Gly421Glu) rs2142992401
NM_000512.5(GALNS):c.1270G>A (p.Val424Ile)
NM_000512.5(GALNS):c.1418A>G (p.Gln473Arg) rs1909825123
NM_000512.5(GALNS):c.1423C>A (p.His475Asn) rs749297663
NM_000512.5(GALNS):c.1481T>C (p.Met494Thr) rs2142982062
NM_000512.5(GALNS):c.1482+5G>C
NM_000512.5(GALNS):c.1488G>T (p.Trp496Cys) rs1355113466
NM_000512.5(GALNS):c.1498G>T (p.Gly500Cys) rs1303492021
NM_000512.5(GALNS):c.1531C>G (p.Pro511Ala)
NM_000512.5(GALNS):c.1531C>T (p.Pro511Ser)
NM_000512.5(GALNS):c.1555C>T (p.Leu519Phe) rs1597515354
NM_000512.5(GALNS):c.169C>T (p.Pro57Ser)
NM_000512.5(GALNS):c.170C>T (p.Pro57Leu)
NM_000512.5(GALNS):c.173A>G (p.Asn58Ser)
NM_000512.5(GALNS):c.211A>G (p.Asn71Asp)
NM_000512.5(GALNS):c.213C>A (p.Asn71Lys)
NM_000512.5(GALNS):c.213C>G (p.Asn71Lys)
NM_000512.5(GALNS):c.23C>G (p.Thr8Arg) rs2143013653
NM_000512.5(GALNS):c.295A>C (p.Thr99Pro)
NM_000512.5(GALNS):c.376G>C (p.Glu126Gln) rs1177468816
NM_000512.5(GALNS):c.423-16G>A
NM_000512.5(GALNS):c.425A>G (p.His142Arg) rs1288895691
NM_000512.5(GALNS):c.446T>G (p.Phe149Cys) rs2143002458
NM_000512.5(GALNS):c.46G>T (p.Val16Leu)
NM_000512.5(GALNS):c.499T>G (p.Phe167Val) rs148565559
NM_000512.5(GALNS):c.513CAA[1] (p.Asn172del)
NM_000512.5(GALNS):c.566+6G>A rs1912274502
NM_000512.5(GALNS):c.587T>A (p.Ile196Asn) rs759502513
NM_000512.5(GALNS):c.634-5C>G rs1354095513
NM_000512.5(GALNS):c.692C>T (p.Ala231Val)
NM_000512.5(GALNS):c.704C>T (p.Thr235Met)
NM_000512.5(GALNS):c.707_708inv (p.His236Arg)
NM_000512.5(GALNS):c.754G>A (p.Gly252Arg)
NM_000512.5(GALNS):c.758+3G>A
NM_000512.5(GALNS):c.77G>A (p.Gly26Asp) rs1210023208
NM_000512.5(GALNS):c.828C>G (p.His276Gln) rs759216815
NM_000512.5(GALNS):c.848T>C (p.Val283Ala)
NM_000512.5(GALNS):c.865A>C (p.Asn289His) rs1314520034
NM_000512.5(GALNS):c.886G>A (p.Ala296Thr)
NM_000512.5(GALNS):c.899G>T (p.Gly300Val) rs780778562
NM_000512.5(GALNS):c.89C>T (p.Pro30Leu) rs1298604798
NM_000512.5(GALNS):c.924T>G (p.Cys308Trp) rs1567526988
NM_000512.5(GALNS):c.930G>C (p.Lys310Asn) rs377285422
NM_000512.5(GALNS):c.960G>T (p.Glu320Asp) rs1213435795
NM_000512.5(GALNS):c.964G>C (p.Ala322Pro) rs1597559500
NM_000512.5(GALNS):c.970G>T (p.Ala324Ser) rs569725890

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