ClinVar Miner

List of variants in gene ERMARD reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NC_000006.12:g.169781721G>T rs6459666 0.58737
NM_018341.3(ERMARD):c.1853+307T>C rs6918960 0.58548
NM_018341.3(ERMARD):c.508-41G>A rs6459660 0.58013
NM_018341.3(ERMARD):c.1854-246C>T rs7749597 0.30756
NM_018341.3(ERMARD):c.1853+116C>T rs3828738 0.30748
NM_018341.3(ERMARD):c.1521-144G>A rs4716398 0.30321
NM_018341.3(ERMARD):c.1617C>T (p.Ile539=) rs4716399 0.30166
NM_018341.3(ERMARD):c.1618A>G (p.Ser540Gly) rs4716346 0.30164
NM_018341.3(ERMARD):c.508-196A>G rs6459659 0.28460
NM_018341.3(ERMARD):c.1521-84A>G rs4716345 0.28399
NM_018341.3(ERMARD):c.1739+113C>T rs7765561 0.28396
NM_018341.3(ERMARD):c.1234-260A>G rs4145078 0.28311
NM_018341.3(ERMARD):c.176-48A>T rs6459658 0.28043
NM_018341.3(ERMARD):c.858-10A>C rs9478006 0.19730
NM_018341.3(ERMARD):c.858-222T>G rs4546491 0.19724
NM_018341.3(ERMARD):c.1234-138G>A rs9478007 0.18867
NM_018341.3(ERMARD):c.6+7C>T rs3749882 0.17754
NM_018341.3(ERMARD):c.870C>T (p.Cys290=) rs11966349 0.14834
NM_018341.3(ERMARD):c.1059+269G>A rs56869360 0.12301
NM_018341.3(ERMARD):c.605+98A>G rs17860639 0.10561
NM_018341.3(ERMARD):c.743-148A>G rs77381840 0.10285
NM_018341.3(ERMARD):c.7-258A>C rs2274953 0.10045
NM_018341.3(ERMARD):c.1059+175C>G rs9295024 0.08943
NM_018341.3(ERMARD):c.418-132T>C rs9478102 0.08943
NM_018341.3(ERMARD):c.1505G>A (p.Arg502His) rs41265401 0.08157
NM_018341.3(ERMARD):c.1739+97C>T rs9383525 0.08122
NM_018341.3(ERMARD):c.1739+18T>C rs79997179 0.07456
NM_018341.3(ERMARD):c.1233+10A>G rs17860640 0.06562
NM_018341.3(ERMARD):c.315+116G>A rs17860633 0.05718
NM_018341.3(ERMARD):c.507+75A>G rs13209742 0.04289
NM_018341.3(ERMARD):c.1853+39G>A rs6930701 0.02459
NM_018341.3(ERMARD):c.1060-12A>G rs111551747 0.01905
NM_018341.3(ERMARD):c.1740-250G>A rs113582159 0.01903
NM_018341.3(ERMARD):c.1521-106G>A rs7749929 0.01896
NM_018341.3(ERMARD):c.1944A>G (p.Thr648=) rs2274952 0.01821
NM_018341.3(ERMARD):c.743-305A>G rs3800549 0.01799
NM_018341.3(ERMARD):c.9A>C (p.Val3=) rs61736820 0.01485
NM_018341.3(ERMARD):c.1014T>C (p.Asp338=) rs61747671 0.01263
NM_018341.3(ERMARD):c.274A>G (p.Ile92Val) rs17860632 0.01166
NM_018341.3(ERMARD):c.257C>A (p.Thr86Asn) rs61735516 0.00917
NM_018341.3(ERMARD):c.858-11C>T rs111558820 0.00898
NM_018341.3(ERMARD):c.1112A>G (p.His371Arg) rs61738268 0.00801
NM_018341.3(ERMARD):c.819A>G (p.Pro273=) rs149907871 0.00464
NM_018341.3(ERMARD):c.5A>T (p.Glu2Val) rs200330797 0.00424
NM_018341.3(ERMARD):c.1162A>G (p.Asn388Asp) rs151283330 0.00282
NM_018341.3(ERMARD):c.1589T>C (p.Leu530Pro) rs141119961 0.00190
NC_000006.12:g.169781612G>C rs3818755
NM_018341.3(ERMARD):c.1739+78C>T rs17860647
NM_018341.3(ERMARD):c.606-21_606-20del rs113550806
NM_018341.3(ERMARD):c.961-302G>A rs113022481

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