List of variants reported as uncertain significance for Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome by Illumina Laboratory Services, Illumina

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Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_000095.3(COMP):c.218-7C>G	rs554031979	0.00051
NM_000095.3(COMP):c.700C>T (p.Pro234Ser)	rs557483957	0.00024
NM_000095.3(COMP):c.-15C>T	rs374273743	0.00010
NM_000095.3(COMP):c.1894G>A (p.Glu632Lys)	rs144170209	0.00010
NM_000095.3(COMP):c.11A>C (p.Asp4Ala)	rs370458957	0.00007
NM_000095.3(COMP):c.87C>T (p.Asp29=)	rs759794906	0.00006
NM_000095.3(COMP):c.1803T>C (p.Phe601=)	rs753120962	0.00004
NM_000095.3(COMP):c.763-6C>G	rs886054303	0.00004
NM_000095.3(COMP):c.1590C>A (p.Asp530Glu)	rs759687021	0.00003
NM_000095.3(COMP):c.566A>G (p.His189Arg)	rs199792797	0.00003
NM_000095.3(COMP):c.643G>C (p.Gly215Arg)	rs768437153	0.00003
NM_000095.3(COMP):c.867+11G>A	rs776412620	0.00003
NM_000095.3(COMP):c.217+15G>A	rs1439169186	0.00001
NM_000095.3(COMP):c.235C>A (p.Arg79Ser)	rs768907479	0.00001
NM_000095.3(COMP):c.314C>A (p.Thr105Lys)	rs1377001812	0.00001
NM_000095.3(COMP):c.377C>T (p.Thr126Ile)	rs886054305	0.00001
NM_000095.3(COMP):c.850G>A (p.Glu284Lys)	rs145895692	0.00001
NM_000095.3(COMP):c.*111A>G	rs886054301
NM_000095.3(COMP):c.1406A>T (p.Asp469Val)	rs766950514
NM_000095.3(COMP):c.1621C>G (p.Pro541Ala)	rs1451255197
NM_000095.3(COMP):c.165+9C>A	rs886054306
NM_000095.3(COMP):c.1836C>G (p.Val612=)	rs886054302
NM_000095.3(COMP):c.1993C>A (p.Arg665=)	rs370202476
NM_000095.3(COMP):c.218-13C>A	rs1225414726
NM_000095.3(COMP):c.218-14C>A	rs150008764
NM_000095.3(COMP):c.218-14C>G	rs150008764
NM_000095.3(COMP):c.327G>T (p.Ala109=)	rs2055200293
NM_000095.3(COMP):c.345C>G (p.Pro115=)	rs2055200093
NM_000095.3(COMP):c.381C>T (p.Asp127=)	rs2055199653
NM_000095.3(COMP):c.582C>G (p.Asn194Lys)	rs1352615165
NM_000095.3(COMP):c.620G>A (p.Gly207Asp)	rs886054304
NM_000095.3(COMP):c.69G>A (p.Gln23=)	rs886054307
NM_000095.3(COMP):c.862C>A (p.Arg288Ser)	rs762455276

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