List of variants reported as uncertain significance for Hypoparathyroidism-retardation-dysmorphism syndrome by Illumina Laboratory Services, Illumina

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Total variants: 37

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HGVS	dbSNP	gnomAD frequency
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.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.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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