List of variants reported as benign for multiple epiphyseal dysplasia by Illumina Laboratory Services, Illumina

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 82

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HGVS	dbSNP	gnomAD frequency
NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr)	rs30832	0.99306
NM_000112.4(SLC26A2):c.*3404C>T	rs30833	0.98883
NM_002381.5(MATN3):c.447C>T (p.Ala149=)	rs28598872	0.46576
NM_002381.5(MATN3):c.615G>A (p.Glu205=)	rs28401180	0.46446
NM_002381.5(MATN3):c.*176C>T	rs7569975	0.44939
NM_001852.4(COL9A2):c.977A>G (p.Gln326Arg)	rs2228564	0.29671
NM_002381.5(MATN3):c.1406-4C>T	rs35973216	0.25515
NM_000112.4(SLC26A2):c.*1024T>G	rs8073	0.21816
NM_000112.4(SLC26A2):c.*5553G>A	rs10476926	0.20874
NM_002381.5(MATN3):c.909G>A (p.Thr303=)	rs28452699	0.20065
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser)	rs3776070	0.19906
NM_000112.4(SLC26A2):c.*5338T>C	rs17711997	0.14477
NM_001852.4(COL9A2):c.630+13G>T	rs3737815	0.14424
NM_001852.4(COL9A2):c.1003C>G (p.Leu335Val)	rs2228567	0.09793
NM_001852.4(COL9A2):c.*312T>A	rs41466547	0.06828
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile)	rs3737821	0.06797
NM_000095.3(COMP):c.2267A>G (p.Gln756Arg)	rs61752496	0.06295
NM_000095.3(COMP):c.*1G>C	rs77185131	0.06291
NM_001852.4(COL9A2):c.1368+12G>A	rs112370406	0.05200
NM_000095.3(COMP):c.1755G>A (p.Thr585=)	rs34467947	0.04927
NM_001852.4(COL9A2):c.*122T>C	rs2229827	0.04619
NM_001852.4(COL9A2):c.*236G>A	rs41480445	0.04618
NM_001852.4(COL9A2):c.*543G>A	rs75291055	0.04607
NM_000112.4(SLC26A2):c.*4982A>G	rs74589369	0.04589
NM_000112.4(SLC26A2):c.*3670G>A	rs76262875	0.04581
NM_001852.4(COL9A2):c.738+10T>C	rs56326652	0.04354
NM_000112.4(SLC26A2):c.*2226C>T	rs7722454	0.04260
NM_001852.4(COL9A2):c.1062G>A (p.Pro354=)	rs6676013	0.03985
NM_000095.3(COMP):c.1156A>G (p.Asn386Asp)	rs61739916	0.03133
NM_000112.4(SLC26A2):c.*4460G>T	rs111742763	0.03131
NM_000112.4(SLC26A2):c.*590C>T	rs1046710	0.03077
NM_000112.4(SLC26A2):c.*1631C>T	rs7717795	0.03068
NM_001852.4(COL9A2):c.1161+10T>A	rs117563156	0.02847
NM_001852.4(COL9A2):c.1288-12C>T	rs77695700	0.02575
NM_001852.4(COL9A2):c.364-8C>T	rs11207843	0.02379
NM_001852.4(COL9A2):c.737C>T (p.Thr246Met)	rs2228565	0.02212
NM_002381.5(MATN3):c.187T>G (p.Ser63Ala)	rs3816644	0.01892
NM_002381.5(MATN3):c.754G>A (p.Glu252Lys)	rs52826764	0.01868
NM_000095.3(COMP):c.511G>A (p.Ala171Thr)	rs115338183	0.01840
NM_001852.4(COL9A2):c.2001C>T (p.Ala667=)	rs2229826	0.01771
NM_001852.4(COL9A2):c.955-4C>G	rs118135975	0.01678
NM_000112.4(SLC26A2):c.2220A>G (p.Ter740=)	rs61732052	0.01353
NM_000112.4(SLC26A2):c.*3466C>G	rs6888879	0.01309
NM_000112.4(SLC26A2):c.*2612C>T	rs28451300	0.01303
NM_002381.5(MATN3):c.908C>T (p.Thr303Met)	rs77245812	0.01128
NM_001852.4(COL9A2):c.544A>G (p.Met182Val)	rs113549021	0.00866
NM_000095.3(COMP):c.1956C>T (p.Asn652=)	rs10421797	0.00834
NM_001852.4(COL9A2):c.1053+7C>T	rs79627294	0.00587
NM_000095.3(COMP):c.762+12C>A	rs199733531	0.00463
NM_002381.5(MATN3):c.62T>G (p.Leu21Arg)	rs573907581	0.00445
NM_001852.4(COL9A2):c.1870+9T>C	rs139929272	0.00406
NM_000095.3(COMP):c.*92G>A	rs9407	0.00384
NM_002381.5(MATN3):c.*759C>T	rs190300120	0.00377
NM_000095.3(COMP):c.2227+8G>A	rs116499541	0.00363
NM_001852.4(COL9A2):c.*578C>T	rs143152709	0.00347
NM_001852.4(COL9A2):c.*263C>T	rs187788913	0.00248
NM_001852.4(COL9A2):c.*111C>T	rs114634369	0.00246
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu)	rs150687987	0.00242
NM_002381.5(MATN3):c.1169-10G>A	rs149849256	0.00242
NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr)	rs140041506	0.00230
NM_001852.4(COL9A2):c.312C>T (p.Pro104=)	rs144072834	0.00195
NM_001852.4(COL9A2):c.2019G>A (p.Ser673=)	rs148008235	0.00168
NM_001852.4(COL9A2):c.250-7T>C	rs146943340	0.00165
NM_000112.4(SLC26A2):c.*600G>T	rs143723255	0.00148
NM_000095.3(COMP):c.*15A>G	rs201937857	0.00126
NM_001852.4(COL9A2):c.151-8T>C	rs144162904	0.00105
NM_001852.4(COL9A2):c.1009-12T>G	rs200570244	0.00095
NM_000095.3(COMP):c.279C>A (p.Pro93=)	rs139319996	0.00093
NM_000095.3(COMP):c.2152C>A (p.Arg718=)	rs28936368	0.00081
NM_002381.5(MATN3):c.792G>A (p.Ala264=)	rs201563567	0.00035
NM_000095.3(COMP):c.468G>T (p.Pro156=)	rs202241721	0.00017
NM_000112.4(SLC26A2):c.1410A>G (p.Val470=)	rs115777661	0.00017
NM_001852.4(COL9A2):c.304-13G>A	rs200032742	0.00016
NM_001852.4(COL9A2):c.1781C>T (p.Thr594Met)	rs567504204	0.00011
NM_001852.4(COL9A2):c.1237C>T (p.Pro413Ser)	rs201985170	0.00009
NM_002381.5(MATN3):c.354C>T (p.Ala118=)	rs192462913	0.00007
NM_000095.3(COMP):c.1668+13T>A	rs74432818
NM_000095.3(COMP):c.1668+13T>G	rs74432818
NM_000095.3(COMP):c.195G>A (p.Thr65=)	rs529891904
NM_000095.3(COMP):c.218-14C>T	rs150008764
NM_000112.4(SLC26A2):c.*4469del	rs397883627
NM_001852.4(COL9A2):c.88G>A (p.Gly30Arg)	rs193238892

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