ClinVar Miner

List of variants reported as uncertain significance for capillary malformation by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.694C>T (p.Arg232Trp) rs200372420 0.00014
NM_001114753.3(ENG):c.1852+21C>G rs147188969 0.00008
NM_002890.3(RASA1):c.1813A>C (p.Lys605Gln)
NM_002890.3(RASA1):c.3037A>G (p.Ser1013Gly) rs993477801
NM_002890.3(RASA1):c.353A>G (p.Lys118Arg)

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