List of variants reported as uncertain significance for Rhizomelic chondrodysplasia punctata by Illumina Laboratory Services, Illumina

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		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_003659.4(AGPS):c.1866_1867del	rs761041008	0.11055
NM_000288.3(PEX7):c.-77T>C	rs1321472	0.00160
NM_014236.4(GNPAT):c.1212T>C (p.Ala404=)	rs143205045	0.00110
NM_000288.3(PEX7):c.-91G>A	rs772358439	0.00013
NM_003659.4(AGPS):c.*5072T>G	rs552637479	0.00010
NM_014236.4(GNPAT):c.*123A>G	rs537905640	0.00006
NM_000288.3(PEX7):c.-88T>C	rs886061115
NM_000288.4(PEX7):c.305_310del	rs886061123
NM_003659.4(AGPS):c.*1105dup	rs574941020
NM_003659.4(AGPS):c.1811_1812insAAAA	rs138605667
NM_003659.4(AGPS):c.1836_1841del	rs886055177
NM_003659.4(AGPS):c.*1838AT[10]	rs373957026
NM_003659.4(AGPS):c.*1838AT[12]	rs373957026
NM_003659.4(AGPS):c.1860_1861dup	rs1553519847
NM_003659.4(AGPS):c.1862_1863del	rs886055181
NM_003659.4(AGPS):c.1862_1867del	rs886055182
NM_003659.4(AGPS):c.1863_1864insATGT	rs886055183
NM_003659.4(AGPS):c.*1868GT[7]	rs1491154667
NM_003659.4(AGPS):c.1868_1869insCG	rs886055185
NM_003659.4(AGPS):c.1878_1883del	rs886055186
NM_003659.4(AGPS):c.1878_1885del	rs886055187
NM_003659.4(AGPS):c.*1880AT[11]	rs59535792
NM_003659.4(AGPS):c.*1880AT[7]	rs59535792
NM_003659.4(AGPS):c.*1880AT[8]	rs59535792
NM_003659.4(AGPS):c.*3911AGTTTT[1]	rs369534713
NM_003659.4(AGPS):c.467_475del	rs886055171
NM_003659.4(AGPS):c.1762A>G (p.Ile588Val)	rs886055168
NM_003659.4(AGPS):c.86CGGACC[3] (p.29PD[3])	rs886055162
NM_014236.4(GNPAT):c.1522+15T>C	rs200561922

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