ClinVar Miner

List of variants in gene LAMA3 studied for generalized junctional epidermolysis bullosa non-Herlitz type

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_198129.4(LAMA3):c.8500= (p.Gly2834=) rs1154233 0.99993
NM_198129.4(LAMA3):c.2304+67G>T rs6507956 0.79861
NM_198129.4(LAMA3):c.1942-74G>C rs2155841 0.79748
NM_198129.4(LAMA3):c.948-84C>T rs6507894 0.72706
NM_198129.4(LAMA3):c.7778+97T>C rs1541836 0.67847
NM_198129.4(LAMA3):c.2901T>C (p.Ala967=) rs9962023 0.64176
NM_198129.4(LAMA3):c.9211-21C>T rs2288592 0.51885
NM_198129.4(LAMA3):c.9352-7G>A rs2241643 0.51794
NM_198129.4(LAMA3):c.4260G>C (p.Gly1420=) rs867449 0.48275
NM_198129.4(LAMA3):c.4137-87A>G rs867448 0.47865
NM_198129.4(LAMA3):c.2304+44A>C rs7244406 0.47571
NM_198129.4(LAMA3):c.4530C>T (p.Pro1510=) rs12965685 0.47260
NM_198129.4(LAMA3):c.6201+53A>G rs1154227 0.35521
NM_198129.4(LAMA3):c.6147C>G (p.Ala2049=) rs1154226 0.21073
NM_198129.4(LAMA3):c.8445C>A (p.Asn2815Lys) rs1154232 0.17201
NM_198129.4(LAMA3):c.1183-110C>T rs6507907 0.16922
NM_198129.4(LAMA3):c.565+64G>T rs9955745 0.15790
NM_198129.4(LAMA3):c.8731C>T (p.Leu2911=) rs1131521 0.15145
NM_198129.4(LAMA3):c.3622C>A (p.Pro1208Thr) rs17202961 0.05021
NM_198129.4(LAMA3):c.4557C>T (p.Val1519=) rs202215313 0.00040
NM_198129.4(LAMA3):c.9781A>G (p.Ser3261Gly) rs150364364 0.00019
NM_198129.4(LAMA3):c.7654C>T (p.Arg2552Ter) rs1181742615 0.00001
NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter) rs772038362 0.00001
NM_198129.4(LAMA3):c.1064-15A>G rs7232856
NM_198129.4(LAMA3):c.4246G>A (p.Val1416Met) rs77331026
NM_198129.4(LAMA3):c.5462-44G>A rs1268716
NM_198129.4(LAMA3):c.7228T>A (p.Leu2410Met) rs772651987
NM_198129.4(LAMA3):c.8299del (p.Val2767fs)
NM_198129.4(LAMA3):c.8381C>T (p.Ser2794Leu) rs2145377026
NM_198129.4(LAMA3):c.839C>T (p.Pro280Leu) rs2143574692
NM_198129.4(LAMA3):c.8576+7G>C rs1258107

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