ClinVar Miner

List of variants reported as pathogenic for Cardiac valvular dysplasia, X-linked

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.1910C>T (p.Pro637Leu) rs267606815 0.00001
NM_001110556.2(FLNA):c.1829-1G>C rs1603362402
NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln) rs267606815
NM_001110556.2(FLNA):c.2132T>A (p.Val711Asp) rs267606817
NM_001110556.2(FLNA):c.2280+266_2827-25delinsTG
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) rs1603360542
NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg) rs267606816

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