ClinVar Miner

List of variants studied for Cutis laxa, autosomal recessive, type 1B by Illumina Laboratory Services, Illumina

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Total variants: 37
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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.276C>T (p.His92=) rs633800 0.39212
NM_016938.5(EFEMP2):c.-113C>T rs188624478 0.02060
NM_016938.5(EFEMP2):c.*403C>G rs77540033 0.00883
NM_016938.5(EFEMP2):c.161-10C>T rs2234461 0.00387
NM_016938.5(EFEMP2):c.138C>T (p.Asp46=) rs2234457 0.00375
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.*115G>A rs187686630 0.00223
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.*282C>T rs572394429 0.00068
NM_016938.5(EFEMP2):c.99C>T (p.Pro33=) rs140946753 0.00045
NM_016938.5(EFEMP2):c.728-3C>T rs377139656 0.00041
NM_016938.5(EFEMP2):c.-13G>A rs886048507 0.00036
NM_016938.5(EFEMP2):c.977G>A (p.Arg326His) rs141868759 0.00019
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) rs142509316 0.00016
NM_016938.5(EFEMP2):c.1065C>A (p.Ser355Arg) rs377646143 0.00011
NM_016938.5(EFEMP2):c.*305C>T rs886048504 0.00010
NM_016938.5(EFEMP2):c.363T>C (p.Cys121=) rs746343857 0.00006
NM_016938.5(EFEMP2):c.161-6C>G rs773745810 0.00005
NM_016938.5(EFEMP2):c.874C>T (p.His292Tyr) rs532989312 0.00005
NM_016938.5(EFEMP2):c.167A>G (p.Asn56Ser) rs768570882 0.00002
NM_016938.5(EFEMP2):c.872C>T (p.Ala291Val) rs753778921 0.00002
NM_016938.5(EFEMP2):c.*174G>A rs762945459 0.00001
NM_016938.5(EFEMP2):c.*182A>G rs1565271753 0.00001
NM_016938.5(EFEMP2):c.*247A>C rs1486449571 0.00001
NM_016938.5(EFEMP2):c.-10C>T rs1859987394 0.00001
NM_016938.5(EFEMP2):c.639C>T (p.Cys213=) rs199606204 0.00001
NM_016938.5(EFEMP2):c.*3A>G rs886048505
NM_016938.5(EFEMP2):c.160G>T (p.Asp54Tyr) rs886048506
NM_016938.5(EFEMP2):c.321C>T (p.Asn107=) rs762409753
NM_016938.5(EFEMP2):c.397G>A (p.Asp133Asn) rs766172211
NM_016938.5(EFEMP2):c.63C>T (p.Leu21=) rs1442174846

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