ClinVar Miner

List of variants studied for Hypoparathyroidism-retardation-dysmorphism syndrome by Illumina Laboratory Services, Illumina

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_003193.5(TBCE):c.560+5G>A rs12757197 0.13398
NM_003193.5(TBCE):c.*142T>A rs7537 0.13128
NM_003193.5(TBCE):c.1068A>G (p.Leu356=) rs6666168 0.04346
NM_003193.5(TBCE):c.-49T>C rs55980101 0.03537
NM_003193.5(TBCE):c.100+13T>G rs199696216 0.03115
NM_003193.5(TBCE):c.614T>C (p.Val205Ala) rs16832611 0.02475
NM_003193.5(TBCE):c.1226A>G (p.Glu409Gly) rs16832619 0.02446
NM_003193.5(TBCE):c.998G>C (p.Ser333Thr) rs35579976 0.01018
NM_003193.5(TBCE):c.1050A>G (p.Glu350=) rs35663526 0.00725
NM_003193.5(TBCE):c.-93T>A rs114193373 0.00614
NM_003193.5(TBCE):c.101-5G>A rs113829976 0.00440
NM_003193.5(TBCE):c.214C>T (p.Pro72Ser) rs62620041 0.00297
NM_003193.5(TBCE):c.1400-14T>C rs150827657 0.00276
NM_003193.5(TBCE):c.191C>T (p.Pro64Leu) rs147489278 0.00135
NM_003193.5(TBCE):c.281G>A (p.Gly94Glu) rs148616786 0.00122
NM_003193.5(TBCE):c.1397C>T (p.Pro466Leu) rs114972093 0.00121
NM_003193.5(TBCE):c.585C>T (p.Ser195=) rs139440109 0.00120
NM_003193.5(TBCE):c.1577G>A (p.Arg526Gln) rs140662460 0.00098
NM_003193.5(TBCE):c.253A>G (p.Ile85Val) rs143886167 0.00076
NM_003193.5(TBCE):c.*108A>G rs78867315 0.00065
NM_003193.5(TBCE):c.1465C>A (p.Leu489Ile) rs143917509 0.00064
NM_003193.5(TBCE):c.737+11C>T rs181223923 0.00064
NM_003193.5(TBCE):c.945C>T (p.Asn315=) rs138014826 0.00060
NM_003193.5(TBCE):c.835T>C (p.Leu279=) rs147049084 0.00033
NM_003193.5(TBCE):c.1492-14C>T rs147400126 0.00027
NM_003193.5(TBCE):c.667C>T (p.Arg223Trp) rs75832955 0.00018
NM_003193.5(TBCE):c.446C>G (p.Ala149Gly) rs150187679 0.00016
NM_003193.5(TBCE):c.847A>T (p.Ile283Phe) rs200022583 0.00016
NM_003193.5(TBCE):c.460+14C>T rs143717755 0.00014
NM_003193.5(TBCE):c.*39G>A rs373300985 0.00013
NM_003193.5(TBCE):c.738-12T>A rs370888603 0.00012
NM_003193.5(TBCE):c.909G>A (p.Thr303=) rs202063874 0.00012
NM_003193.5(TBCE):c.-68G>C rs754235694 0.00011
NM_003193.5(TBCE):c.100+1G>A rs200356271 0.00009
NM_003193.5(TBCE):c.1263C>G (p.Leu421=) rs199943206 0.00008
NM_003193.5(TBCE):c.963+8C>G rs199555636 0.00006
NM_003193.5(TBCE):c.*17T>C rs773370448 0.00003
NM_003193.5(TBCE):c.808C>T (p.Leu270=) rs200169233 0.00003
NM_003193.5(TBCE):c.1270+9G>A rs748495327 0.00002
NM_003193.5(TBCE):c.70C>T (p.Arg24Cys) rs750637765 0.00002
NM_003193.5(TBCE):c.*208G>A rs1218893081 0.00001
NM_003193.5(TBCE):c.1125C>T (p.Pro375=) rs762683460 0.00001
NM_003193.5(TBCE):c.1270+4del rs774067348 0.00001
NM_003193.5(TBCE):c.422G>A (p.Cys141Tyr) rs372421061 0.00001
NM_003193.5(TBCE):c.*132A>G rs1682693904
NM_003193.5(TBCE):c.*133T>G rs1455426794
NM_003193.5(TBCE):c.*177T>C rs886046153
NM_003193.5(TBCE):c.*60_*62dup rs886046152
NM_003193.5(TBCE):c.-92C>G rs886046147
NM_003193.5(TBCE):c.100+13TG[25] rs10524346
NM_003193.5(TBCE):c.100+13TG[27] rs10524346
NM_003193.5(TBCE):c.100+13TG[28] rs10524346
NM_003193.5(TBCE):c.100+15T>G rs886046149
NM_003193.5(TBCE):c.1253A>G (p.Tyr418Cys) rs750744949
NM_003193.5(TBCE):c.159C>T (p.His53=) rs754279473
NM_003193.5(TBCE):c.737+15C>T rs886046150
NM_003193.5(TBCE):c.981G>A (p.Glu327=) rs886046151

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