ClinVar Miner

List of variants studied for Dilated cardiomyopathy 1JJ by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001105206.3(LAMA4):c.4173T>C (p.Tyr1391=) rs35042032 0.01889
NM_001105206.3(LAMA4):c.423-4T>G rs79008328 0.01844
NM_001105206.3(LAMA4):c.196-12T>C rs78871662 0.01627
NM_001105206.3(LAMA4):c.280G>A (p.Gly94Ser) rs35349917 0.01613
NM_001105206.3(LAMA4):c.423-10C>T rs75058449 0.01596
NM_001105206.3(LAMA4):c.4646A>G (p.Asn1549Ser) rs12110554 0.01544
NM_001105206.3(LAMA4):c.531C>T (p.Pro177=) rs61742228 0.01462
NM_001105206.3(LAMA4):c.195+144T>C rs147118520 0.01345
NM_001105206.3(LAMA4):c.4065C>T (p.Phe1355=) rs34753919 0.01070
NM_001105206.3(LAMA4):c.4287+15C>T rs116361180 0.01054
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01004
NM_001105206.3(LAMA4):c.888C>T (p.Ser296=) rs17073495 0.00429
NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly) rs35605307 0.00341
NM_001105206.3(LAMA4):c.5443G>A (p.Val1815Ile) rs3734292 0.00274
NM_001105206.3(LAMA4):c.4314A>C (p.Ser1438=) rs77367833 0.00240
NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr) rs144482486 0.00228
NM_001105206.3(LAMA4):c.924T>C (p.His308=) rs143580603 0.00205
NM_001105206.3(LAMA4):c.5016T>A (p.Ile1672=) rs148517180 0.00194
NM_001105206.3(LAMA4):c.2493+15G>T rs77901141 0.00168
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys) rs138153075 0.00135
NM_001105206.3(LAMA4):c.1475T>A (p.Leu492His) rs3752579 0.00119
NM_001105206.3(LAMA4):c.514G>A (p.Gly172Ser) rs147695488 0.00091
NM_001105206.3(LAMA4):c.2403G>A (p.Thr801=) rs142559688 0.00078
NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=) rs150069819 0.00075
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=) rs143269044 0.00074
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519 0.00067
NM_001105206.3(LAMA4):c.674C>T (p.Ala225Val) rs149615862 0.00052
NM_001105206.3(LAMA4):c.921T>G (p.Ala307=) rs186498011 0.00045
NM_001105206.3(LAMA4):c.254A>G (p.Asn85Ser) rs145301300 0.00043
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=) rs147894075 0.00027
NM_001105206.3(LAMA4):c.1541G>A (p.Arg514Gln) rs146358872 0.00011
NM_001105206.3(LAMA4):c.1821G>A (p.Lys607=) rs374481199 0.00010
NM_001105206.3(LAMA4):c.1962G>A (p.Ala654=) rs140246538 0.00005
NM_001105206.3(LAMA4):c.3506C>T (p.Pro1169Leu) rs730880123 0.00002
NM_001105206.3(LAMA4):c.4111A>C (p.Ile1371Leu) rs974775253 0.00001
NM_001105206.3(LAMA4):c.4869C>T (p.Leu1623=) rs1554324509 0.00001
NM_001105206.3(LAMA4):c.3708A>T (p.Arg1236Ser) rs2114656750
NM_001105206.3(LAMA4):c.5135G>C (p.Gly1712Ala) rs1777911531
NM_001105206.3(LAMA4):c.848_849= (p.Asp283=) rs71543223

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