List of variants reported as uncertain significance for rhizomelic chondrodysplasia punctata type 1 by Illumina Laboratory Services, Illumina

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Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_000288.4(PEX7):c.*38G>A	rs41288965	0.00188
NM_000288.4(PEX7):c.*272A>G	rs186705952	0.00145
NM_000288.4(PEX7):c.615C>T (p.Asp205=)	rs147298444	0.00085
NM_000288.4(PEX7):c.418-4G>T	rs199552223	0.00054
NM_000288.4(PEX7):c.94C>T (p.Leu32=)	rs886061118	0.00032
NM_000288.4(PEX7):c.188+3A>G	rs200234391	0.00019
NM_000288.4(PEX7):c.340-10A>G	rs267608255	0.00006
NM_000288.4(PEX7):c.804-5C>T	rs369653173	0.00004
NM_000288.4(PEX7):c.941A>G (p.Tyr314Cys)	rs201106072	0.00004
NM_000288.4(PEX7):c.*223T>A	rs774681133	0.00003
NM_000288.4(PEX7):c.576C>T (p.Ile192=)	rs776411851	0.00003
NM_000288.4(PEX7):c.903+8A>G	rs779919482	0.00003
NM_000288.4(PEX7):c.-28G>A	rs376808803	0.00001
NM_000288.4(PEX7):c.496C>T (p.His166Tyr)	rs1219430310	0.00001
NM_000288.4(PEX7):c.554T>C (p.Val185Ala)	rs1424846175	0.00001
NM_000288.4(PEX7):c.737G>A (p.Arg246Lys)	rs780186421	0.00001
NM_000288.4(PEX7):c.748-10T>C	rs886061122	0.00001
NM_000288.4(PEX7):c.843A>G (p.Thr281=)	rs767903764	0.00001
NM_000288.4(PEX7):c.961A>G (p.Ile321Val)	rs879706210	0.00001
NM_000288.4(PEX7):c.*124A>G	rs112796869
NM_000288.4(PEX7):c.*305C>A	rs567568009
NM_000288.4(PEX7):c.*305C>T	rs567568009
NM_000288.4(PEX7):c.*367T>C	rs886061124
NM_000288.4(PEX7):c.-18C>T	rs991168664
NM_000288.4(PEX7):c.-35G>A	rs886061116
NM_000288.4(PEX7):c.-3G>A	rs886061117
NM_000288.4(PEX7):c.-69C>A	rs528948146
NM_000288.4(PEX7):c.130+11G>T	rs886061119
NM_000288.4(PEX7):c.130+13C>A	rs886061120
NM_000288.4(PEX7):c.316G>C (p.Val106Leu)	rs886061121
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile)	rs1452611618

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