List of variants reported as uncertain significance for rhizomelic chondrodysplasia punctata by Fulgent Genetics, Fulgent Genetics

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_003659.4(AGPS):c.214A>G (p.Thr72Ala)	rs560217758	0.00031
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)	rs191969418	0.00011
NM_001351132.2(PEX5):c.230G>A (p.Arg77His)	rs780957318	0.00006
NM_014236.4(GNPAT):c.1031G>A (p.Arg344Gln)	rs375611364	0.00006
NM_014236.4(GNPAT):c.917C>G (p.Ser306Cys)	rs150822308	0.00004
NM_014236.4(GNPAT):c.988G>T (p.Asp330Tyr)	rs201563848	0.00004
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu)	rs757852291	0.00003
NM_000288.4(PEX7):c.129G>C (p.Ala43=)	rs1256466654	0.00001
NM_000288.4(PEX7):c.554T>C (p.Val185Ala)	rs1424846175	0.00001
NM_000288.4(PEX7):c.803+4C>G	rs759745913	0.00001
NM_001351132.2(PEX5):c.1870G>A (p.Asp624Asn)	rs201963167	0.00001
NM_000288.4(PEX7):c.633+2TA[3]
NM_000288.4(PEX7):c.904-1G>A	rs1413838301
NM_003659.4(AGPS):c.127G>A (p.Gly43Ser)
NM_014236.4(GNPAT):c.1603-3T>G

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