ClinVar Miner

List of variants studied for cutis laxa by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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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.490+23G>C rs630394 0.59356
NM_016938.5(EFEMP2):c.276C>T (p.His92=) rs633800 0.39212
NM_030777.4(SLC2A10):c.1288+10G>A rs76315093 0.00869
NM_002860.4(ALDH18A1):c.2207-3C>T rs149309642 0.00472
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser) rs2234462 0.00344
NM_016938.5(EFEMP2):c.368-4G>A rs111550973 0.00223
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=) rs2234473 0.00178
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497 0.00128
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) rs142509316 0.00016
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=) rs199848479 0.00010
NM_030777.4(SLC2A10):c.316G>T (p.Ala106Ser) rs6094438

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