List of variants reported as uncertain significance for Spondyloepiphyseal dysplasia tarda

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_001011658.4(TRAPPC2):c.*263T>C	rs377210137	0.03618
NM_001011658.4(TRAPPC2):c.*942G>T	rs768568672	0.00401
NM_001011658.4(TRAPPC2):c.*1032T>C	rs1412886464	0.00039
NM_001011658.4(TRAPPC2):c.*1486G>A	rs187740735	0.00025
NM_001011658.4(TRAPPC2):c.*752A>G	rs1057515791	0.00017
NM_001011658.4(TRAPPC2):c.*1288T>G	rs1417991590	0.00010
NM_001011658.4(TRAPPC2):c.*187A>T	rs1427810998	0.00010
NM_001011658.4(TRAPPC2):c.*670C>T	rs1429642104	0.00009
NM_001011658.4(TRAPPC2):c.*867C>T	rs1471265901	0.00008
NM_001011658.4(TRAPPC2):c.*1287G>T	rs1165831875	0.00005
NM_001011658.4(TRAPPC2):c.*308G>A	rs1457504825	0.00005
NM_001011658.4(TRAPPC2):c.*323T>G	rs1057515792	0.00005
NM_001011658.4(TRAPPC2):c.*435A>G	rs368897746	0.00005
NM_001011658.4(TRAPPC2):c.*1442C>T	rs771455096	0.00003
NM_001011658.4(TRAPPC2):c.-19-3T>C	rs781420575	0.00003
NM_001011658.4(TRAPPC2):c.*332C>T	rs1448063407	0.00002
NM_001011658.4(TRAPPC2):c.*703G>A	rs554971161	0.00002
NM_001011658.4(TRAPPC2):c.*1191C>T	rs1057515789	0.00001
NM_001011658.4(TRAPPC2):c.*690T>C	rs1478481249	0.00001
NM_001011658.4(TRAPPC2):c.*1436C>T	rs192328990
NM_001011658.4(TRAPPC2):c.*179A>T	rs1057515796
NM_001011658.4(TRAPPC2):c.*2060G>A	rs1057515788
NM_001011658.4(TRAPPC2):c.*243G>T	rs1057515795
NM_001011658.4(TRAPPC2):c.*465T>G	rs780841342
NM_001011658.4(TRAPPC2):c.*522G>A	rs2046249479
NM_001011658.4(TRAPPC2):c.*712A>G	rs1276471670
NM_001011658.4(TRAPPC2):c.*949G>T	rs2106707
NM_001011658.4(TRAPPC2):c.*989G>T	rs1449359101
NM_001011658.4(TRAPPC2):c.-179G>C	rs1057515797
NM_001011658.4(TRAPPC2):c.176T>C (p.Met59Thr)	rs2046291142

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