ClinVar Miner

List of variants reported as likely pathogenic for hereditary hypophosphatemic rickets by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_001177316.2(SLC34A3):c.413C>T (p.Ser138Phe) rs141734934 0.00021
NM_004407.4(DMP1):c.135+1G>T rs141480996 0.00013
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=) rs121918236 0.00004
NM_006208.3(ENPP1):c.2376T>A (p.Asn792Lys) rs137853273 0.00004
NM_001177316.2(SLC34A3):c.449-1G>C rs1345816189 0.00003
NM_001177316.2(SLC34A3):c.1335+2T>A rs752222200 0.00002
NM_001177316.2(SLC34A3):c.3G>A (p.Met1Ile) rs369400414 0.00002
NM_004407.4(DMP1):c.55-1G>C rs587776697 0.00002
NM_000444.6(PHEX):c.*231A>G rs946863800 0.00001
NM_001177316.2(SLC34A3):c.1242C>A (p.Tyr414Ter) rs949841477 0.00001
NM_001177316.2(SLC34A3):c.846+1G>A rs754054340 0.00001
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg) rs777367269 0.00001
NM_006208.3(ENPP1):c.2608-1G>A rs149828062 0.00001
NM_020638.3(FGF23):c.211A>G (p.Ser71Gly) rs104894342 0.00001
NM_000444.6(PHEX):c.1587-2A>C
NM_000444.6(PHEX):c.1714G>A (p.Gly572Ser) rs1064795106
NM_000444.6(PHEX):c.2088del (p.Ser695_Tyr696insTer)
NM_000444.6(PHEX):c.2193del (p.Phe731fs) rs886041631
NM_000444.6(PHEX):c.264G>A (p.Trp88Ter)
NM_000444.6(PHEX):c.540G>A (p.Trp180Ter) rs1602274883
NM_000444.6(PHEX):c.733-1G>A rs886041223
NM_001127898.4(CLCN5):c.1004G>T (p.Ser335Ile)
NM_001127898.4(CLCN5):c.1052C>A (p.Ser351Ter)
NM_001127898.4(CLCN5):c.1137dup (p.Phe380fs)
NM_001127898.4(CLCN5):c.1275T>G (p.Tyr425Ter)
NM_001127898.4(CLCN5):c.1485C>G (p.Tyr495Ter)
NM_001127898.4(CLCN5):c.1564del (p.Ser522fs) rs1933979876
NM_001127898.4(CLCN5):c.1595G>A (p.Gly532Asp)
NM_001127898.4(CLCN5):c.1601_1602dup (p.Ala535Ter)
NM_001127898.4(CLCN5):c.1633C>T (p.Gln545Ter)
NM_001127898.4(CLCN5):c.1658G>A (p.Trp553Ter)
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter) rs1557194353
NM_001127898.4(CLCN5):c.1744+1G>C
NM_001127898.4(CLCN5):c.1748G>A (p.Gly583Glu)
NM_001127898.4(CLCN5):c.1756C>T (p.Arg586Trp) rs797044812
NM_001127898.4(CLCN5):c.1790A>C (p.Glu597Ala)
NM_001127898.4(CLCN5):c.2291_2293delinsAA (p.Thr764fs)
NM_001127898.4(CLCN5):c.277_282delinsTCTC (p.Val93fs)
NM_001127898.4(CLCN5):c.348del (p.Ala116_Leu117insTer)
NM_001127898.4(CLCN5):c.416-1G>A
NM_001127898.4(CLCN5):c.567G>A (p.Trp189Ter)
NM_001127898.4(CLCN5):c.772A>T (p.Lys258Ter)
NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg) rs1933713383
NM_001127898.4(CLCN5):c.933+1G>A
NM_001177316.2(SLC34A3):c.1093+2T>C
NM_001177316.2(SLC34A3):c.1093_1093+9del
NM_001177316.2(SLC34A3):c.1128C>A (p.Tyr376Ter)
NM_001177316.2(SLC34A3):c.1208T>G (p.Met403Arg) rs532292902
NM_001177316.2(SLC34A3):c.1247del (p.Leu416fs)
NM_001177316.2(SLC34A3):c.1248_1249del (p.Leu417fs) rs757714479
NM_001177316.2(SLC34A3):c.1268G>A (p.Gly423Asp)
NM_001177316.2(SLC34A3):c.1315_1321dup (p.Leu441fs)
NM_001177316.2(SLC34A3):c.1382G>A (p.Trp461Ter)
NM_001177316.2(SLC34A3):c.1460_1466del (p.Val487fs)
NM_001177316.2(SLC34A3):c.1501del (p.Leu501fs)
NM_001177316.2(SLC34A3):c.1502del (p.Leu501fs) rs1836579405
NM_001177316.2(SLC34A3):c.1603C>T (p.Gln535Ter)
NM_001177316.2(SLC34A3):c.1664G>A (p.Trp555Ter)
NM_001177316.2(SLC34A3):c.176-1G>A
NM_001177316.2(SLC34A3):c.181del (p.Arg61fs) rs1473192539
NM_001177316.2(SLC34A3):c.197_246del (p.Leu66fs)
NM_001177316.2(SLC34A3):c.2T>C (p.Met1Thr)
NM_001177316.2(SLC34A3):c.305-1G>C
NM_001177316.2(SLC34A3):c.448+2T>C
NM_001177316.2(SLC34A3):c.600G>A (p.Trp200Ter)
NM_001177316.2(SLC34A3):c.699_700delinsTT (p.Gln234Ter)
NM_001177316.2(SLC34A3):c.756+1G>C
NM_001177316.2(SLC34A3):c.828C>A (p.Cys276Ter)
NM_001177316.2(SLC34A3):c.85+1G>A
NM_001177316.2(SLC34A3):c.926-1G>C
NM_004407.4(DMP1):c.103-1G>A
NM_004407.4(DMP1):c.403G>T (p.Gly135Ter)
NM_006208.3(ENPP1):c.124del (p.Asp42fs)
NM_006208.3(ENPP1):c.1366C>T (p.Arg456Ter) rs1258544339
NM_006208.3(ENPP1):c.1709A>G (p.Tyr570Cys)
NM_006208.3(ENPP1):c.2312-1G>A
NM_006208.3(ENPP1):c.2479_2482dup (p.Pro828fs)
NM_006208.3(ENPP1):c.2596G>A (p.Glu866Lys)
NM_006208.3(ENPP1):c.2631G>A (p.Trp877Ter)
NM_006208.3(ENPP1):c.2T>G (p.Met1Arg)
NM_006208.3(ENPP1):c.313+1G>A
NM_006208.3(ENPP1):c.6del (p.Glu2fs)
NM_006208.3(ENPP1):c.769_770del (p.Phe257fs)
NM_020638.3(FGF23):c.211+1G>A

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