List of variants in gene LAMC2 studied for junctional epidermolysis bullosa, non-Herlitz type

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_005562.3(LAMC2):c.268+14A>G	rs647347	0.45636
NM_005562.3(LAMC2):c.798T>G (p.Gly266=)	rs1047980	0.29549
NM_005562.3(LAMC2):c.2688G>A (p.Gln896=)	rs1047981	0.29455
NM_005562.3(LAMC2):c.641-80C>T	rs2296307	0.25699
NM_005562.3(LAMC2):c.483C>T (p.Val161=)	rs1129723	0.25575
NM_005562.3(LAMC2):c.297C>T (p.Ser99=)	rs2274980	0.25565
NM_005562.3(LAMC2):c.405-31T>C	rs10911285	0.25565
NM_005562.3(LAMC2):c.2198G>C (p.Ser733Thr)	rs2296303	0.16512
NM_005562.3(LAMC2):c.371C>T (p.Thr124Met)	rs11586699	0.05840
NM_005562.3(LAMC2):c.196G>A (p.Glu66Lys)	rs146325169	0.00114
NM_005562.3(LAMC2):c.3454C>T (p.Gln1152Ter)	rs1217053724	0.00001
NM_005562.3(LAMC2):c.1043del (p.Ile348fs)	rs2102228301
NM_005562.3(LAMC2):c.1650C>A (p.Cys550Ter)	rs200783718
NM_005562.3(LAMC2):c.2278G>A (p.Glu760Lys)	rs2102242954
NM_005562.3(LAMC2):c.3385C>T (p.Arg1129Ter)	rs201307156
NM_005562.3(LAMC2):c.3451C>T (p.Gln1151Ter)	rs2102258267
NM_005562.3(LAMC2):c.815A>G (p.Asp272Gly)	rs2102224102

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