ClinVar Miner

List of variants studied for Marden-Walker syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001378183.1(PIEZO2):c.6012C>T (p.Asp2004=) rs16975235 0.01635
NM_001378183.1(PIEZO2):c.3941C>T (p.Ser1314Phe) rs9959296 0.01461
NM_001378183.1(PIEZO2):c.3757+13A>G rs73389079 0.00391
NM_001378183.1(PIEZO2):c.6475G>C (p.Glu2159Gln) rs200276831 0.00076
NM_001378183.1(PIEZO2):c.2170-18del rs11468237

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