ClinVar Miner

List of variants studied for aortic valve disorder by New York Genome Center

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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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_017617.5(NOTCH1):c.4315G>A (p.Asp1439Asn) rs200232299 0.00003
NM_006849.4(PDIA2):c.383G>A (p.Arg128His) rs373590123 0.00002
NM_000501.4(ELN):c.1785T>C (p.Tyr595=) rs727503033 0.00001
NM_005585.5(SMAD6):c.731T>C (p.Leu244Pro) rs1457962668 0.00001
NM_005585.5(SMAD6):c.785A>T (p.Asn262Ile) rs1436851649

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