ClinVar Miner

List of variants in gene LAMA2 reported as uncertain significance for Merosin deficient congenital muscular dystrophy

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Total variants: 78
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HGVS dbSNP
NM_000426.3(LAMA2):c.1358G>C (p.Cys453Ser) rs1554234086
NM_000426.3(LAMA2):c.1364G>A (p.Arg455Gln) rs201177178
NM_000426.3(LAMA2):c.1415_1429del (p.Ser472_Ser476del) rs1554234118
NM_000426.3(LAMA2):c.1782+2dup rs1272011145
NM_000426.3(LAMA2):c.1793_1795del (p.Val598del) rs1165542235
NM_000426.3(LAMA2):c.2089A>G (p.Ile697Val) rs778059153
NM_000426.3(LAMA2):c.2176T>C (p.Cys726Arg) rs920771326
NM_000426.3(LAMA2):c.21_23CCT[4] (p.Leu13dup) rs1347823295
NM_000426.3(LAMA2):c.2217G>T (p.Trp739Cys) rs192317605
NM_000426.3(LAMA2):c.2375T>C (p.Phe792Ser) rs398123370
NM_000426.3(LAMA2):c.2450+5_2450+8del rs1554260313
NM_000426.3(LAMA2):c.2451-6A>G rs896691971
NM_000426.3(LAMA2):c.2462C>T (p.Thr821Met) rs117422805
NM_000426.3(LAMA2):c.2749+2dup rs759144210
NM_000426.3(LAMA2):c.30_32del (p.Leu13del) rs1278217420
NM_000426.3(LAMA2):c.3110T>C (p.Ile1037Thr) rs797045679
NM_000426.3(LAMA2):c.3556-13T>A rs775278003
NM_000426.3(LAMA2):c.4010A>G (p.His1337Arg) rs139739075
NM_000426.3(LAMA2):c.4019_4024dup (p.Lys1342_Ala1343insIleIle) rs1554270059
NM_000426.3(LAMA2):c.4107_4109del (p.Met1370del) rs1446213044
NM_000426.3(LAMA2):c.4232G>A (p.Gly1411Glu) rs727502850
NM_000426.3(LAMA2):c.437C>T (p.Ser146Phe) rs143680577
NM_000426.3(LAMA2):c.4471G>A (p.Asp1491Asn) rs375640462
NM_000426.3(LAMA2):c.4477C>T (p.Arg1493Cys) rs751053800
NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184
NM_000426.3(LAMA2):c.4517G>C (p.Cys1506Ser) rs1409043489
NM_000426.3(LAMA2):c.4640C>T (p.Thr1547Met) rs778106503
NM_000426.3(LAMA2):c.4660_4668del (p.Gly1554_Lys1556del) rs1554278670
NM_000426.3(LAMA2):c.5072-3C>A rs759155854
NM_000426.3(LAMA2):c.5235-18G>A rs188365084
NM_000426.3(LAMA2):c.5443G>C (p.Glu1815Gln) rs1554287445
NM_000426.3(LAMA2):c.5598G>T (p.Met1866Ile) rs1554289926
NM_000426.3(LAMA2):c.5665_5667del (p.Lys1889del) rs767066183
NM_000426.3(LAMA2):c.5954_5962dup (p.Ala1985_Asp1987dup) rs1554295259
NM_000426.3(LAMA2):c.595T>A (p.Cys199Ser) rs886043693
NM_000426.3(LAMA2):c.611C>A (p.Ser204Tyr) rs1204310516
NM_000426.3(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053
NM_000426.3(LAMA2):c.6195_6197GAA[2] (p.Lys2067del) rs758495000
NM_000426.3(LAMA2):c.6260C>A (p.Ser2087Tyr) rs1299914386
NM_000426.3(LAMA2):c.6322C>T (p.Arg2108Trp) rs139824017
NM_000426.3(LAMA2):c.6563G>A (p.Ser2188Asn) rs372592018
NM_000426.3(LAMA2):c.6992+5G>A rs1221715098
NM_000426.3(LAMA2):c.715C>T (p.Arg239Cys) rs145465528
NM_000426.3(LAMA2):c.7250A>G (p.His2417Arg) rs147185142
NM_000426.3(LAMA2):c.7286_7288del (p.Arg2429del) rs1350705904
NM_000426.3(LAMA2):c.7369A>C (p.Asn2457His) rs797045680
NM_000426.3(LAMA2):c.7526T>A (p.Leu2509His) rs578183193
NM_000426.3(LAMA2):c.7630A>G (p.Ile2544Val)
NM_000426.3(LAMA2):c.7700G>C (p.Ser2567Thr) rs1554305929
NM_000426.3(LAMA2):c.77_79AGC[4] (p.Gln28dup) rs1554312698
NM_000426.3(LAMA2):c.77_79AGC[5] (p.Gln27_Gln28dup) rs1554312698
NM_000426.3(LAMA2):c.7933_7941del (p.Tyr2645_Gln2647del) rs762065775
NM_000426.3(LAMA2):c.819+2dup rs765817742
NM_000426.3(LAMA2):c.830C>T (p.Ser277Leu) rs398123388
NM_000426.3(LAMA2):c.8326A>T (p.Ile2776Phe) rs569286697
NM_000426.3(LAMA2):c.8591A>T (p.Asp2864Val) rs778258870
NM_000426.3(LAMA2):c.8654T>C (p.Leu2885Pro) rs1554316199
NM_000426.3(LAMA2):c.8710_8712dup (p.Tyr2904dup) rs1554317110
NM_000426.3(LAMA2):c.8716_8717insCCA (p.Ile2906_Asp2907insThr) rs1554317120
NM_000426.3(LAMA2):c.872G>C (p.Gly291Ala) rs1554226736
NM_000426.3(LAMA2):c.8836G>A (p.Gly2946Arg) rs370843758
NM_000426.3(LAMA2):c.8989-12C>G rs144860334
NM_000426.3(LAMA2):c.8992_8994dup (p.Met2998dup) rs1437850233
NM_000426.3(LAMA2):c.9128G>A (p.Gly3043Glu) rs762958440
NM_000426.3(LAMA2):c.9145C>G (p.Gln3049Glu) rs146525742
NM_000426.3(LAMA2):c.9211+6T>C rs201375881
NM_000426.3(LAMA2):c.922G>A (p.Glu308Lys) rs146462599
NM_000426.3(LAMA2):c.9266_9283dup (p.Arg3089_Thr3094dup) rs1554321180
NM_001079823.2(LAMA2):c.1669_1671CAG[1] (p.Gln558del) rs775570308
NM_001079823.2(LAMA2):c.1795_1797GGA[1] (p.Gly600del) rs753417521
NM_001079823.2(LAMA2):c.4468_4470GAC[1] (p.Asp1491del) rs1554277753
NM_001079823.2(LAMA2):c.4743_4745TCT[1] (p.Leu1583del) rs1554281282
NM_001079823.2(LAMA2):c.476_478ATG[1] (p.Asp160del) rs1192484658
NM_001079823.2(LAMA2):c.5169_5171GAT[1] (p.Met1724del) rs1554286976
NM_001079823.2(LAMA2):c.5449_5451AAG[1] (p.Lys1818del) rs1225610123
NM_001079823.2(LAMA2):c.6510_6512TGT[1] (p.Val2172del) rs1363017615
NM_001079823.2(LAMA2):c.7390_7391delinsTT (p.Ala2464Leu) rs1554303509
NM_001079823.2(LAMA2):c.8756_8758AAC[1] (p.Gln2920del) rs1554317173

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