ClinVar Miner

List of variants reported as uncertain significance for Renal hypomagnesemia 4 by Fulgent Genetics, Fulgent Genetics

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001963.6(EGF):c.662G>C (p.Arg221Thr) rs144437729 0.00065
NM_001963.6(EGF):c.1416T>A (p.Asp472Glu) rs149448320 0.00041
NM_001963.6(EGF):c.1919A>G (p.Asp640Gly) rs376974586 0.00023
NM_001963.6(EGF):c.1354G>A (p.Val452Ile) rs142751045 0.00019
NM_001963.6(EGF):c.1684G>C (p.Val562Leu) rs769513396 0.00014
NM_001963.6(EGF):c.2858-11G>T rs370698699 0.00013
NM_001963.6(EGF):c.464G>A (p.Ser155Asn) rs150361543 0.00013
NM_001963.6(EGF):c.2378A>T (p.Glu793Val) rs369597497 0.00009
NM_001963.6(EGF):c.1052G>A (p.Arg351Gln) rs200099199 0.00006
NM_001963.6(EGF):c.638G>A (p.Arg213Gln) rs373552129 0.00006
NM_001963.6(EGF):c.887A>C (p.Lys296Thr) rs760127815 0.00005
NM_001963.6(EGF):c.1180C>T (p.Arg394Ter) rs369702571 0.00004
NM_001963.6(EGF):c.1864C>T (p.Arg622Ter) rs759896124 0.00004
NM_001963.6(EGF):c.3110C>T (p.Ala1037Val) rs572990451 0.00003
NM_001963.6(EGF):c.1480C>T (p.Arg494Ter) rs753726274 0.00002
NM_001963.6(EGF):c.1336G>A (p.Gly446Arg) rs1560698635

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