ClinVar Miner

List of variants studied for Cutis laxa, autosomal recessive, type 1B by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val) rs601314 0.89787
NM_016938.5(EFEMP2):c.-58G>A rs2303384 0.61477
NM_016938.5(EFEMP2):c.-113C>T rs188624478 0.02060
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser) rs2234462 0.00344
NM_016938.5(EFEMP2):c.368-11G>A rs181514768 0.00272
NM_016938.5(EFEMP2):c.368-4G>A rs111550973 0.00223
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=) rs2234473 0.00178
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser) rs144320036 0.00104
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala) rs148410446 0.00085
NM_016938.5(EFEMP2):c.27C>G (p.Pro9=) rs144817331 0.00057
NM_016938.5(EFEMP2):c.728-3C>T rs377139656 0.00041
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) rs142509316 0.00016
NM_016938.5(EFEMP2):c.1095G>A (p.Ala365=) rs369627072 0.00014
NM_016938.5(EFEMP2):c.474C>T (p.Ile158=) rs779614307 0.00005
NM_016938.5(EFEMP2):c.554G>A (p.Arg185His) rs143662598 0.00002
NM_016938.5(EFEMP2):c.231C>T (p.Gly77=) rs928050535 0.00001
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) rs193302867 0.00001
NM_016938.5(EFEMP2):c.460G>A (p.Gly154Ser) rs377199919 0.00001
NM_016938.5(EFEMP2):c.157C>T (p.Arg53Trp) rs936904481
NM_016938.5(EFEMP2):c.591C>T (p.Asn197=)

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