ClinVar Miner

List of variants studied for Hypophosphatemic rickets, autosomal recessive, 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_004407.4(DMP1):c.815G>A (p.Arg272His) rs145237146 0.00202
NM_004407.4(DMP1):c.639G>A (p.Glu213=) rs116732769 0.00193
NM_004407.4(DMP1):c.600G>A (p.Gly200=) rs34682707 0.00111
NM_004407.4(DMP1):c.1255C>T (p.Pro419Ser) rs140275311 0.00036
NM_004407.4(DMP1):c.*159T>A rs865870083 0.00030
NM_004407.4(DMP1):c.1502T>C (p.Ile501Thr) rs146762807 0.00026
NM_004407.4(DMP1):c.428C>T (p.Thr143Ile) rs370153862 0.00014
NM_004407.4(DMP1):c.135+1G>T rs141480996 0.00013
NM_004407.4(DMP1):c.517C>T (p.Arg173Trp) rs200549155 0.00009
NM_004407.4(DMP1):c.55-1G>C rs587776697 0.00002
NM_004407.4(DMP1):c.1408G>A (p.Glu470Lys) rs369921592 0.00001
NM_004407.4(DMP1):c.1490A>T (p.His497Leu) rs376245118 0.00001
NM_004407.4(DMP1):c.709A>G (p.Met237Val) rs201413886 0.00001
NM_004407.4(DMP1):c.1534G>A (p.Gly512Ser) rs377414504
NM_004407.4(DMP1):c.1538A>G (p.Tyr513Cys) rs1264750963
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile) rs141979823

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