ClinVar Miner

List of variants studied for ectodermal dysplasia syndrome by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_147127.5(EVC2):c.1470+3A>T rs370769794 0.00007
NR_003051.4(RMRP):n.17C>T rs772664375 0.00002
NR_003051.4(RMRP):n.77C>T rs902757638 0.00001
NM_020779.4(WDR35):c.2874G>T (p.Lys958Asn) rs1558328135
NM_147127.5(EVC2):c.3454_3461dup (p.Gln1154fs) rs1722451930
NM_147127.5(EVC2):c.380T>A (p.Leu127Ter) rs2151736638
NM_153717.3(EVC):c.2561+1G>A rs1553894457

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