ClinVar Miner

List of variants reported as uncertain significance for Rhizomelic chondrodysplasia punctata

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Total variants: 68
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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_003659.4(AGPS):c.1086C>T (p.His362=) rs138280491 0.00072
NM_003659.4(AGPS):c.231G>A (p.Ala77=) rs576982787 0.00037
NM_000288.3(PEX7):c.-91G>A rs772358439 0.00013
NM_000288.4(PEX7):c.44C>T (p.Pro15Leu) rs925593750 0.00011
NM_003659.4(AGPS):c.*5072T>G rs552637479 0.00010
NM_000288.4(PEX7):c.418-3T>C rs770117560 0.00006
NM_014236.4(GNPAT):c.*123A>G rs537905640 0.00006
NM_000288.4(PEX7):c.203A>T (p.Asp68Val) rs763388501 0.00004
NM_000288.4(PEX7):c.467G>A (p.Ser156Asn) rs1554331549 0.00004
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291 0.00003
NM_003659.4(AGPS):c.870G>A (p.Gln290=) rs534985206 0.00003
NM_000288.4(PEX7):c.244G>A (p.Val82Ile) rs770777194 0.00002
NM_000288.4(PEX7):c.413A>G (p.Lys138Arg) rs762113236 0.00002
NM_000288.4(PEX7):c.629A>G (p.Asn210Ser) rs753193218 0.00002
NM_003659.4(AGPS):c.1245G>A (p.Pro415=) rs200344160 0.00002
NM_000288.4(PEX7):c.115C>A (p.His39Asn) rs1316023843 0.00001
NM_000288.4(PEX7):c.129G>C (p.Ala43=) rs1256466654 0.00001
NM_000288.4(PEX7):c.193G>A (p.Asp65Asn) rs1229970963 0.00001
NM_000288.4(PEX7):c.296A>G (p.Lys99Arg) rs367806635 0.00001
NM_000288.4(PEX7):c.373G>A (p.Glu125Lys) rs769137963 0.00001
NM_000288.4(PEX7):c.701C>T (p.Pro234Leu) rs759158962 0.00001
NM_003659.4(AGPS):c.1437A>G (p.Gln479=) rs753932510 0.00001
NM_003659.4(AGPS):c.14C>T (p.Ala5Val) rs1233318758 0.00001
NM_003659.4(AGPS):c.186A>G (p.Arg62=) rs990214554 0.00001
NM_003659.4(AGPS):c.200C>T (p.Ala67Val) rs1454806934 0.00001
NM_003659.4(AGPS):c.354C>T (p.Tyr118=) rs200594024 0.00001
NM_003659.4(AGPS):c.40G>T (p.Gly14Cys) rs1217837187 0.00001
NM_003659.4(AGPS):c.57C>T (p.Tyr19=) rs1346009699 0.00001
NM_000288.3(PEX7):c.-88T>C rs886061115
NM_000288.4(PEX7):c.*305_*310del rs886061123
NM_000288.4(PEX7):c.121G>C (p.Gly41Arg) rs1210968366
NM_000288.4(PEX7):c.331G>A (p.Ala111Thr) rs368225510
NM_000288.4(PEX7):c.693A>G (p.Val231=) rs1582759944
NM_000288.4(PEX7):c.832C>T (p.Leu278Phe) rs1775685342
NM_000288.4(PEX7):c.917C>T (p.Ser306Phe) rs267608258
NM_000288.4(PEX7):c.968C>A (p.Ala323Asp) rs1184131500
NM_000288.4(PEX7):c.970T>C (p.Ter324Arg) rs988988279
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.1376A>G (p.Asp459Gly) rs1688501814
NM_003659.4(AGPS):c.1566T>C (p.Tyr522=) rs1224416609
NM_003659.4(AGPS):c.1762A>G (p.Ile588Val) rs886055168
NM_003659.4(AGPS):c.1874A>C (p.Gln625Pro) rs769818292
NM_003659.4(AGPS):c.197C>T (p.Ala66Val) rs774854340
NM_003659.4(AGPS):c.258G>A (p.Lys86=) rs1685066744
NM_003659.4(AGPS):c.582A>G (p.Ile194Met) rs1686432818
NM_003659.4(AGPS):c.86CGGACC[3] (p.29PD[3]) rs886055162
NM_003659.4(AGPS):c.952G>A (p.Ala318Thr) rs1171884922
NM_014236.4(GNPAT):c.1522+15T>C rs200561922

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