ClinVar Miner

List of variants studied for Bicuspid aortic valve

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr) rs80232004 0.00101
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) rs559917218 0.00034
NM_002474.3(MYH11):c.3560C>T (p.Thr1187Met) rs552818350 0.00004
NM_030777.4(SLC2A10):c.929C>T (p.Ser310Phe) rs763521707 0.00003
NM_006849.4(PDIA2):c.383G>A (p.Arg128His) rs373590123 0.00002
NC_012920.1:m.8420_8421insATA rs1569484208
NC_012920.1:m.8751_8752insAAA rs1569484234
NC_012920.1:m.8950G>A rs1556423574

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