List of variants in gene GALNT3 reported as uncertain significance for familial tumoral calcinosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 99

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HGVS	dbSNP	gnomAD frequency
NM_004482.4(GALNT3):c.*870A>T	rs189290881	0.00180
NM_004482.4(GALNT3):c.-252C>T	rs540533361	0.00115
NM_004482.4(GALNT3):c.507A>G (p.Arg169=)	rs150682922	0.00092
NM_004482.4(GALNT3):c.-246A>C	rs759149342	0.00091
NM_004482.4(GALNT3):c.293T>G (p.Leu98Trp)	rs143136193	0.00036
NM_004482.4(GALNT3):c.493G>A (p.Gly165Arg)	rs147779149	0.00024
NM_004482.4(GALNT3):c.599C>T (p.Thr200Met)	rs138645426	0.00016
NM_004482.4(GALNT3):c.-238C>T	rs886055016	0.00013
NM_004482.4(GALNT3):c.718G>C (p.Val240Leu)	rs146978168	0.00013
NM_004482.4(GALNT3):c.538C>T (p.Arg180Cys)	rs377392356	0.00011
NM_004482.4(GALNT3):c.1534G>A (p.Val512Ile)	rs374713815	0.00007
NM_004482.4(GALNT3):c.*143G>A	rs771919992	0.00006
NM_004482.4(GALNT3):c.147A>C (p.Glu49Asp)	rs756068998	0.00006
NM_004482.4(GALNT3):c.338G>A (p.Arg113His)	rs200762567	0.00006
NM_004482.4(GALNT3):c.1253G>A (p.Arg418His)	rs143396063	0.00004
NM_004482.4(GALNT3):c.1348A>G (p.Ile450Val)	rs146096050	0.00004
NM_004482.4(GALNT3):c.1435C>T (p.Arg479Cys)	rs753199090	0.00004
NM_004482.4(GALNT3):c.600G>A (p.Thr200=)	rs749981979	0.00004
NM_004482.4(GALNT3):c.*27G>T	rs775247455	0.00003
NM_004482.4(GALNT3):c.*318T>G	rs886055013	0.00003
NM_004482.4(GALNT3):c.1369G>A (p.Asp457Asn)	rs377389049	0.00003
NM_004482.4(GALNT3):c.851A>G (p.Tyr284Cys)	rs539221514	0.00003
NM_004482.3(GALNT3):c.-358C>T	rs886055018	0.00002
NM_004482.4(GALNT3):c.485G>A (p.Arg162Gln)	rs766717305	0.00002
NM_004482.4(GALNT3):c.782G>A (p.Arg261Gln)	rs111875321	0.00002
NM_004482.4(GALNT3):c.*28G>T	rs1688303362	0.00001
NM_004482.4(GALNT3):c.*319A>C	rs886055012	0.00001
NM_004482.4(GALNT3):c.-227C>T	rs886055015	0.00001
NM_004482.4(GALNT3):c.-309G>A	rs886055017	0.00001
NM_004482.4(GALNT3):c.-73C>T	rs971726102	0.00001
NM_004482.4(GALNT3):c.1524+3G>A	rs1204200153	0.00001
NM_004482.4(GALNT3):c.1565A>G (p.Glu522Gly)	rs780631238	0.00001
NM_004482.4(GALNT3):c.1627-3T>C	rs373125597	0.00001
NM_004482.4(GALNT3):c.166A>T (p.Met56Leu)	rs779573886	0.00001
NM_004482.4(GALNT3):c.337C>T (p.Arg113Cys)	rs371697905	0.00001
NM_004482.4(GALNT3):c.838+10T>C	rs201497875	0.00001
NM_004482.4(GALNT3):c.918T>C (p.Ile306=)	rs753659298	0.00001
NM_004482.3(GALNT3):c.-346G>A	rs1683418237
NM_004482.3(GALNT3):c.-370_-366delGCCTC	rs886055019
NM_004482.4(GALNT3):c.*308TA[7]	rs140333197
NM_004482.4(GALNT3):c.*806G>A	rs1688290292
NM_004482.4(GALNT3):c.*897T>C	rs886055010
NM_004482.4(GALNT3):c.*934dup	rs144647329
NM_004482.4(GALNT3):c.*937C>T	rs886055009
NM_004482.4(GALNT3):c.-138T>C	rs1683412634
NM_004482.4(GALNT3):c.-191C>A	rs1683414225
NM_004482.4(GALNT3):c.1021T>C (p.Ser341Pro)
NM_004482.4(GALNT3):c.1033C>G (p.His345Asp)
NM_004482.4(GALNT3):c.1051A>G (p.Lys351Glu)
NM_004482.4(GALNT3):c.1088C>T (p.Ala363Val)
NM_004482.4(GALNT3):c.1112A>G (p.Lys371Arg)
NM_004482.4(GALNT3):c.1156A>G (p.Ile386Val)
NM_004482.4(GALNT3):c.1191A>C (p.Arg397Ser)
NM_004482.4(GALNT3):c.1268A>G (p.His423Arg)
NM_004482.4(GALNT3):c.1276C>T (p.Pro426Ser)
NM_004482.4(GALNT3):c.1418G>T (p.Arg473Ile)
NM_004482.4(GALNT3):c.1451A>C (p.Asn484Thr)	rs886055014
NM_004482.4(GALNT3):c.1478A>C (p.Tyr493Ser)
NM_004482.4(GALNT3):c.1517C>T (p.Ser506Phe)
NM_004482.4(GALNT3):c.1531A>C (p.Ser511Arg)
NM_004482.4(GALNT3):c.1556A>G (p.Asp519Gly)
NM_004482.4(GALNT3):c.1567A>G (p.Asn523Asp)
NM_004482.4(GALNT3):c.1609G>C (p.Gly537Arg)
NM_004482.4(GALNT3):c.1626+6C>T	rs774391241
NM_004482.4(GALNT3):c.1662C>G (p.His554Gln)
NM_004482.4(GALNT3):c.1691C>T (p.Ala564Val)	rs377579661
NM_004482.4(GALNT3):c.170A>G (p.Lys57Arg)
NM_004482.4(GALNT3):c.1724C>T (p.Thr575Ile)	rs1688323295
NM_004482.4(GALNT3):c.175A>G (p.Lys59Glu)
NM_004482.4(GALNT3):c.1812G>A (p.Met604Ile)
NM_004482.4(GALNT3):c.1846G>T (p.Val616Leu)	rs769052242
NM_004482.4(GALNT3):c.19C>A (p.Leu7Ile)
NM_004482.4(GALNT3):c.209T>C (p.Val70Ala)
NM_004482.4(GALNT3):c.230T>C (p.Met77Thr)
NM_004482.4(GALNT3):c.263A>G (p.Gln88Arg)
NM_004482.4(GALNT3):c.365G>C (p.Gly122Ala)
NM_004482.4(GALNT3):c.367G>T (p.Ala123Ser)
NM_004482.4(GALNT3):c.370T>C (p.Ser124Pro)
NM_004482.4(GALNT3):c.404T>C (p.Val135Ala)
NM_004482.4(GALNT3):c.427C>T (p.Arg143Cys)
NM_004482.4(GALNT3):c.460G>A (p.Ala154Thr)
NM_004482.4(GALNT3):c.460G>T (p.Ala154Ser)
NM_004482.4(GALNT3):c.479T>G (p.Leu160Trp)
NM_004482.4(GALNT3):c.50A>G (p.His17Arg)
NM_004482.4(GALNT3):c.539G>A (p.Arg180His)
NM_004482.4(GALNT3):c.544C>T (p.Pro182Ser)
NM_004482.4(GALNT3):c.549C>A (p.Pro183=)	rs144776270
NM_004482.4(GALNT3):c.594G>C (p.Trp198Cys)
NM_004482.4(GALNT3):c.613G>C (p.Val205Leu)
NM_004482.4(GALNT3):c.667G>A (p.Val223Met)	rs1688610771
NM_004482.4(GALNT3):c.721A>G (p.Lys241Glu)
NM_004482.4(GALNT3):c.734T>C (p.Ile245Thr)
NM_004482.4(GALNT3):c.773T>G (p.Ile258Ser)
NM_004482.4(GALNT3):c.835C>A (p.His279Asn)
NM_004482.4(GALNT3):c.839-11G>T
NM_004482.4(GALNT3):c.874G>A (p.Ala292Thr)
NM_004482.4(GALNT3):c.896C>T (p.Thr299Met)
NM_004482.4(GALNT3):c.904G>T (p.Val302Leu)
NM_004482.4(GALNT3):c.983G>A (p.Arg328His)

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