ClinVar Miner

List of variants studied for congenital merosin-deficient muscular dystrophy 1A by Myriad Genetics, Inc.

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.9211+6T>C rs201375881 0.00091
NM_000426.4(LAMA2):c.542A>G (p.Asn181Ser) rs143664472 0.00014
NM_000426.4(LAMA2):c.1084A>T (p.Arg362Ter) rs191912891 0.00005
NM_000426.4(LAMA2):c.6429+1G>T rs1262029350 0.00002
NM_000426.4(LAMA2):c.112+1G>A rs398123367 0.00001
NM_000426.4(LAMA2):c.3019C>T (p.Gln1007Ter) rs752094219 0.00001
NM_000426.4(LAMA2):c.3444C>A (p.Cys1148Ter) rs1383756739 0.00001
NM_000426.4(LAMA2):c.4858A>T (p.Lys1620Ter) rs762342110 0.00001
NM_000426.4(LAMA2):c.6599G>A (p.Arg2200His) rs779326725 0.00001
NM_000426.4(LAMA2):c.7283C>G (p.Ser2428Ter) rs776104105 0.00001
NM_000426.4(LAMA2):c.8536C>T (p.Gln2846Ter) rs1463264889 0.00001
NM_000426.4(LAMA2):c.1011del (p.Thr339fs)
NM_000426.4(LAMA2):c.1051G>T (p.Glu351Ter) rs1778991422
NM_000426.4(LAMA2):c.1065T>A (p.Tyr355Ter) rs1436470033
NM_000426.4(LAMA2):c.1097T>A (p.Leu366Ter)
NM_000426.4(LAMA2):c.1195_1198del (p.Arg399fs)
NM_000426.4(LAMA2):c.1233C>A (p.Cys411Ter)
NM_000426.4(LAMA2):c.1278T>A (p.Cys426Ter) rs1779703136
NM_000426.4(LAMA2):c.1289_1290insT (p.Glu430fs)
NM_000426.4(LAMA2):c.1365del (p.Cys456fs)
NM_000426.4(LAMA2):c.1429A>T (p.Lys477Ter)
NM_000426.4(LAMA2):c.1464C>A (p.Cys488Ter) rs1780700010
NM_000426.4(LAMA2):c.1533_1534insG (p.Trp512fs)
NM_000426.4(LAMA2):c.1560T>A (p.Cys520Ter) rs1781455687
NM_000426.4(LAMA2):c.1561_1562del (p.Ser521fs)
NM_000426.4(LAMA2):c.1612C>T (p.Gln538Ter) rs1781592001
NM_000426.4(LAMA2):c.1629G>A (p.Trp543Ter)
NM_000426.4(LAMA2):c.1669del (p.Gln557fs)
NM_000426.4(LAMA2):c.1686_1687insA (p.Ser563fs)
NM_000426.4(LAMA2):c.1752G>A (p.Trp584Ter) rs1781606569
NM_000426.4(LAMA2):c.1831G>T (p.Glu611Ter) rs1786068382
NM_000426.4(LAMA2):c.1834G>T (p.Glu612Ter) rs1786068836
NM_000426.4(LAMA2):c.190G>T (p.Glu64Ter) rs1231305572
NM_000426.4(LAMA2):c.1929_1931delinsT (p.His644fs)
NM_000426.4(LAMA2):c.1942G>T (p.Glu648Ter) rs1786301728
NM_000426.4(LAMA2):c.198C>A (p.Tyr66Ter) rs1042843028
NM_000426.4(LAMA2):c.2006_2012del (p.Val669fs)
NM_000426.4(LAMA2):c.2044A>T (p.Lys682Ter) rs1786309995
NM_000426.4(LAMA2):c.2116G>T (p.Glu706Ter) rs1787059737
NM_000426.4(LAMA2):c.2166dup (p.Val723fs)
NM_000426.4(LAMA2):c.2233dup (p.Val745fs)
NM_000426.4(LAMA2):c.2328T>A (p.Cys776Ter) rs1787862380
NM_000426.4(LAMA2):c.2348del (p.Pro783fs)
NM_000426.4(LAMA2):c.2395G>T (p.Gly799Ter)
NM_000426.4(LAMA2):c.2400_2401insAGGAAGACATTTA (p.Ser801fs)
NM_000426.4(LAMA2):c.2404G>T (p.Glu802Ter)
NM_000426.4(LAMA2):c.2461_2476del (p.Thr821fs)
NM_000426.4(LAMA2):c.2471T>A (p.Leu824Ter)
NM_000426.4(LAMA2):c.2521G>T (p.Gly841Ter)
NM_000426.4(LAMA2):c.2557G>T (p.Gly853Ter) rs1789386860
NM_000426.4(LAMA2):c.2587C>T (p.Gln863Ter) rs897845923
NM_000426.4(LAMA2):c.2658T>A (p.Cys886Ter) rs1789395190
NM_000426.4(LAMA2):c.2670del (p.Lys890fs)
NM_000426.4(LAMA2):c.2703T>A (p.Cys901Ter) rs1789398455
NM_000426.4(LAMA2):c.2710G>T (p.Gly904Ter) rs1789399141
NM_000426.4(LAMA2):c.2719G>T (p.Gly907Ter) rs1789399872
NM_000426.4(LAMA2):c.2749+1G>A rs759555791
NM_000426.4(LAMA2):c.2776_2782del (p.Phe926fs)
NM_000426.4(LAMA2):c.2783_2784del (p.Glu928fs)
NM_000426.4(LAMA2):c.2811T>A (p.Cys937Ter)
NM_000426.4(LAMA2):c.286A>T (p.Arg96Ter)
NM_000426.4(LAMA2):c.2879C>G (p.Ser960Ter)
NM_000426.4(LAMA2):c.2916del (p.Phe972fs)
NM_000426.4(LAMA2):c.2950C>T (p.Gln984Ter) rs1773282962
NM_000426.4(LAMA2):c.2957G>A (p.Trp986Ter) rs1773283278
NM_000426.4(LAMA2):c.2968G>T (p.Gly990Ter) rs1187391940
NM_000426.4(LAMA2):c.3123T>A (p.Cys1041Ter) rs1773502803
NM_000426.4(LAMA2):c.3139_3140insT (p.Asn1047fs)
NM_000426.4(LAMA2):c.3172A>T (p.Lys1058Ter) rs1583447808
NM_000426.4(LAMA2):c.3243T>A (p.Cys1081Ter) rs944013929
NM_000426.4(LAMA2):c.3270T>A (p.Cys1090Ter) rs1774323015
NM_000426.4(LAMA2):c.3290_3291del (p.His1097fs)
NM_000426.4(LAMA2):c.3409A>T (p.Lys1137Ter)
NM_000426.4(LAMA2):c.3421del (p.Glu1141fs)
NM_000426.4(LAMA2):c.3454A>T (p.Lys1152Ter) rs1774465781
NM_000426.4(LAMA2):c.3704G>A (p.Trp1235Ter) rs1774541313
NM_000426.4(LAMA2):c.3705G>A (p.Trp1235Ter)
NM_000426.4(LAMA2):c.3896T>A (p.Leu1299Ter)
NM_000426.4(LAMA2):c.389del (p.Leu130fs)
NM_000426.4(LAMA2):c.4106del (p.Thr1369fs)
NM_000426.4(LAMA2):c.4110delinsTTTTT (p.Met1370fs)
NM_000426.4(LAMA2):c.4140T>A (p.Cys1380Ter) rs1774908660
NM_000426.4(LAMA2):c.4146T>A (p.Cys1382Ter) rs1774908820
NM_000426.4(LAMA2):c.4167_4170del (p.Ser1390fs)
NM_000426.4(LAMA2):c.424A>T (p.Lys142Ter) rs1775300950
NM_000426.4(LAMA2):c.4294G>T (p.Glu1432Ter)
NM_000426.4(LAMA2):c.4378A>T (p.Lys1460Ter) rs1776319116
NM_000426.4(LAMA2):c.4397_4398del (p.Cys1466fs)
NM_000426.4(LAMA2):c.4459G>T (p.Glu1487Ter) rs1776730034
NM_000426.4(LAMA2):c.4504G>T (p.Glu1502Ter)
NM_000426.4(LAMA2):c.4561G>T (p.Gly1521Ter) rs1776953529
NM_000426.4(LAMA2):c.4573C>T (p.Gln1525Ter) rs1776953853
NM_000426.4(LAMA2):c.4576G>T (p.Glu1526Ter)
NM_000426.4(LAMA2):c.4601C>A (p.Ser1534Ter) rs917205971
NM_000426.4(LAMA2):c.4752_4753del (p.Asp1585fs)
NM_000426.4(LAMA2):c.4819_4825del (p.Lys1607fs)
NM_000426.4(LAMA2):c.4837G>T (p.Glu1613Ter) rs1247084547
NM_000426.4(LAMA2):c.4913delinsAATAAAGAGAGACAGCA (p.Gly1638delinsGluTer)
NM_000426.4(LAMA2):c.4993G>T (p.Gly1665Ter) rs373997222
NM_000426.4(LAMA2):c.5038G>T (p.Glu1680Ter) rs1778794887
NM_000426.4(LAMA2):c.504T>A (p.Tyr168Ter) rs1008335405
NM_000426.4(LAMA2):c.5062del (p.Asp1688fs)
NM_000426.4(LAMA2):c.507_508insCAAGAGA (p.Ala170fs)
NM_000426.4(LAMA2):c.5092A>T (p.Lys1698Ter) rs1779318396
NM_000426.4(LAMA2):c.512_513del (p.Val171fs)
NM_000426.4(LAMA2):c.5155A>T (p.Lys1719Ter) rs1779323338
NM_000426.4(LAMA2):c.5184del (p.Arg1729fs)
NM_000426.4(LAMA2):c.5274del (p.Phe1758fs)
NM_000426.4(LAMA2):c.5284dup (p.Arg1762fs)
NM_000426.4(LAMA2):c.5568_5569delinsA (p.Glu1857fs)
NM_000426.4(LAMA2):c.5578C>T (p.Gln1860Ter) rs1165626901
NM_000426.4(LAMA2):c.5673_5674del (p.Gln1892fs)
NM_000426.4(LAMA2):c.5674C>T (p.Gln1892Ter) rs1462522184
NM_000426.4(LAMA2):c.569C>A (p.Ser190Ter) rs1775311864
NM_000426.4(LAMA2):c.5836A>T (p.Lys1946Ter)
NM_000426.4(LAMA2):c.5851G>T (p.Glu1951Ter)
NM_000426.4(LAMA2):c.5913_5914del (p.Gln1972fs)
NM_000426.4(LAMA2):c.5944A>T (p.Lys1982Ter) rs1781398399
NM_000426.4(LAMA2):c.602C>A (p.Ser201Ter) rs1775313883
NM_000426.4(LAMA2):c.6030_6031del (p.Asp2011fs)
NM_000426.4(LAMA2):c.6146_6147del (p.Lys2049fs)
NM_000426.4(LAMA2):c.6232A>T (p.Lys2078Ter)
NM_000426.4(LAMA2):c.6248_6249del (p.Val2083fs)
NM_000426.4(LAMA2):c.6262A>T (p.Lys2088Ter) rs1782086229
NM_000426.4(LAMA2):c.6305T>G (p.Leu2102Ter) rs1782333085
NM_000426.4(LAMA2):c.637G>T (p.Glu213Ter) rs1775315900
NM_000426.4(LAMA2):c.6449C>A (p.Ser2150Ter) rs1782761474
NM_000426.4(LAMA2):c.6560del (p.Gly2187fs)
NM_000426.4(LAMA2):c.6643G>T (p.Gly2215Ter)
NM_000426.4(LAMA2):c.6687G>A (p.Trp2229Ter)
NM_000426.4(LAMA2):c.6690C>A (p.Tyr2230Ter) rs1583790201
NM_000426.4(LAMA2):c.691G>T (p.Glu231Ter) rs1778273068
NM_000426.4(LAMA2):c.7126_7127insA (p.Leu2376fs)
NM_000426.4(LAMA2):c.7142delinsGT (p.Ala2381fs)
NM_000426.4(LAMA2):c.7215_7217delinsA (p.Ser2406fs)
NM_000426.4(LAMA2):c.7266G>A (p.Trp2422Ter) rs1783482812
NM_000426.4(LAMA2):c.7280_7283del (p.Leu2427fs)
NM_000426.4(LAMA2):c.7296del (p.Lys2432fs)
NM_000426.4(LAMA2):c.731_732del (p.Arg244fs)
NM_000426.4(LAMA2):c.7339G>T (p.Glu2447Ter) rs1377818460
NM_000426.4(LAMA2):c.7374del (p.Phe2458fs)
NM_000426.4(LAMA2):c.7489A>T (p.Lys2497Ter)
NM_000426.4(LAMA2):c.7578_7579del (p.Tyr2527fs)
NM_000426.4(LAMA2):c.7583_7584del (p.Thr2528fs)
NM_000426.4(LAMA2):c.7621_7622insTA (p.Pro2541fs)
NM_000426.4(LAMA2):c.7658C>A (p.Ser2553Ter)
NM_000426.4(LAMA2):c.7675G>T (p.Glu2559Ter)
NM_000426.4(LAMA2):c.7771_7772delinsT (p.Asn2591fs)
NM_000426.4(LAMA2):c.781A>T (p.Lys261Ter) rs781316719
NM_000426.4(LAMA2):c.7834A>T (p.Arg2612Ter)
NM_000426.4(LAMA2):c.790A>T (p.Arg264Ter) rs1778283565
NM_000426.4(LAMA2):c.7912C>T (p.Gln2638Ter) rs1784882494
NM_000426.4(LAMA2):c.7976del (p.Lys2659fs)
NM_000426.4(LAMA2):c.8008C>T (p.Gln2670Ter) rs1784888496
NM_000426.4(LAMA2):c.8188C>T (p.Gln2730Ter) rs1784919273
NM_000426.4(LAMA2):c.8206_8209del (p.Thr2736fs)
NM_000426.4(LAMA2):c.8377_8383del (p.Val2793fs)
NM_000426.4(LAMA2):c.8430_8431insAG (p.Ala2811fs)
NM_000426.4(LAMA2):c.8542del (p.His2848fs)
NM_000426.4(LAMA2):c.8597_8598insAA (p.Ser2867fs)
NM_000426.4(LAMA2):c.8603dup (p.Asn2868fs)
NM_000426.4(LAMA2):c.8712T>A (p.Tyr2904Ter)
NM_000426.4(LAMA2):c.8770C>T (p.Gln2924Ter) rs1034133545
NM_000426.4(LAMA2):c.8781del (p.Ser2928fs)
NM_000426.4(LAMA2):c.966T>A (p.Cys322Ter)

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