ClinVar Miner

List of variants reported as uncertain significance for Tumoral calcinosis, hyperphosphatemic, familial, 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004482.4(GALNT3):c.493G>A (p.Gly165Arg) rs147779149 0.00024
NM_004482.4(GALNT3):c.718G>C (p.Val240Leu) rs146978168 0.00013
NM_004482.4(GALNT3):c.1534G>A (p.Val512Ile) rs374713815 0.00007
NM_004482.4(GALNT3):c.147A>C (p.Glu49Asp) rs756068998 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.985G>A (p.Gly329Arg) rs1204063782 0.00004
NM_004482.4(GALNT3):c.851A>G (p.Tyr284Cys) rs539221514 0.00003
NM_004482.4(GALNT3):c.166A>T (p.Met56Leu) rs779573886 0.00001
NM_004482.4(GALNT3):c.1626+6C>T rs774391241

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