ClinVar Miner

List of variants reported as benign for Hypertrophic cardiomyopathy 1 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_033118.4(MYLK2):c.1710+15A>G rs6060980 0.09164
NM_033118.4(MYLK2):c.684T>C (p.Ile228=) rs6058469 0.09162
NM_033118.4(MYLK2):c.1082+11G>A rs76530988 0.01935
NM_033118.4(MYLK2):c.1104C>T (p.Phe368=) rs6089088 0.01807
NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala) rs34396614 0.01268
NM_033118.4(MYLK2):c.266G>A (p.Gly89Asp) rs115398036 0.01263
NM_033118.4(MYLK2):c.918C>T (p.Ala306=) rs41293106 0.01179
NM_033118.4(MYLK2):c.1068C>T (p.Val356=) rs17340492 0.01142
NM_033118.4(MYLK2):c.1711-6C>T rs76603530 0.00376
NM_033118.4(MYLK2):c.1711-20C>G rs189282373 0.00356
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu) rs121908108 0.00196
NM_033118.4(MYLK2):c.1295+4C>A rs113936360 0.00179
NM_033118.4(MYLK2):c.508G>A (p.Glu170Lys) rs145656924 0.00175
NM_033118.4(MYLK2):c.1458T>C (p.Asp486=) rs111888319 0.00170
NM_033118.4(MYLK2):c.791C>T (p.Pro264Leu) rs142620954 0.00157
NM_033118.4(MYLK2):c.1584G>A (p.Arg528=) rs55807353 0.00120
NM_033118.4(MYLK2):c.102A>G (p.Lys34=) rs28763880 0.00101
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914 0.00070
NM_033118.4(MYLK2):c.549C>T (p.His183=) rs3746597 0.00035
NM_033118.4(MYLK2):c.786A>G (p.Pro262=) rs727504437 0.00029
NM_033118.4(MYLK2):c.972+14G>A rs193922713 0.00027
NM_033118.4(MYLK2):c.726G>A (p.Gln242=) rs145772898 0.00017
NM_033118.4(MYLK2):c.1224+8A>C rs375144075 0.00006
NM_033118.4(MYLK2):c.6G>A (p.Ala2=) rs201983158 0.00003
NM_033118.4(MYLK2):c.878+17dup rs2123130655
NM_033118.4(MYLK2):c.972+18del rs1223978472

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