ClinVar Miner

List of variants reported as likely benign for hereditary hypophosphatemic rickets with hypercalciuria

Included ClinVar conditions (1):
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001177316.2(SLC34A3):c.539G>C (p.Gly180Ala) rs35643193 0.01167
NM_001177316.2(SLC34A3):c.1140C>T (p.Leu380=) rs113568956 0.00320
NM_001177316.2(SLC34A3):c.1512C>T (p.Phe504=) rs146854507 0.00306
NM_001177316.2(SLC34A3):c.1482C>T (p.Leu494=) rs28510663 0.00302
NM_001177316.2(SLC34A3):c.1093+19G>A rs201165474 0.00220
NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe) rs140639805 0.00216
NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His) rs138872455 0.00215
NM_001177316.2(SLC34A3):c.828C>T (p.Cys276=) rs141775305 0.00161
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser) rs148072630 0.00148
NM_001177316.2(SLC34A3):c.1453C>T (p.Arg485Cys) rs145029982 0.00052
NM_001177316.2(SLC34A3):c.1071C>T (p.Val357=) rs142839759 0.00041
NM_001177316.2(SLC34A3):c.1191G>A (p.Ala397=) rs199701166 0.00039
NM_001177316.2(SLC34A3):c.1197C>G (p.Val399=) rs201720181 0.00035
NM_001177316.2(SLC34A3):c.1093+8C>T rs201986644 0.00019
NM_001177316.2(SLC34A3):c.411G>A (p.Thr137=) rs148026048 0.00018
NM_001177316.2(SLC34A3):c.876C>T (p.Phe292=) rs202060862 0.00016
NM_001177316.2(SLC34A3):c.304+20C>T rs199652389 0.00014
NM_001177316.2(SLC34A3):c.1431C>T (p.Phe477=) rs150176604 0.00013
NM_001177316.2(SLC34A3):c.204C>T (p.Arg68=) rs140559114 0.00012
NM_001177316.2(SLC34A3):c.705G>A (p.Ala235=) rs143867268 0.00009
NM_001177316.2(SLC34A3):c.1179C>T (p.Ser393=) rs200677629 0.00005
NM_001177316.2(SLC34A3):c.757-16C>T rs372713559 0.00004
NM_001177316.2(SLC34A3):c.1093+9G>A rs199976309 0.00003
NM_001177316.2(SLC34A3):c.1335+6G>T rs117115558 0.00003
NM_001177316.2(SLC34A3):c.18C>T (p.Pro6=) rs772903522 0.00003
NM_001177316.2(SLC34A3):c.846+15C>T rs755035076 0.00003
NM_001177316.2(SLC34A3):c.1629T>C (p.Pro543=) rs545784124 0.00001
NM_001177316.2(SLC34A3):c.312G>A (p.Val104=) rs1040164729 0.00001
NM_001177316.2(SLC34A3):c.561-9C>T rs1469811548 0.00001
NM_001177316.2(SLC34A3):c.1326C>T (p.Ser442=) rs144275345
NM_001177316.2(SLC34A3):c.1402C>A (p.Arg468=) rs121918238
NM_001177316.2(SLC34A3):c.195_215del (p.Arg65_Gly71del) rs532224704
NM_001177316.2(SLC34A3):c.709G>A (p.Asp237Asn) rs145877051
NM_001177316.2(SLC34A3):c.870C>A (p.Gly290=) rs747540875
NM_001177316.2(SLC34A3):c.942G>C (p.Ala314=) rs34664302

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