ClinVar Miner

List of variants reported as benign for aortic valve disease

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000192.3(TBX5):c.309C>T (p.Leu103=) rs28730763
NM_000501.4(ELN):c.*1194A>G rs10233395
NM_000501.4(ELN):c.*501_*502insA rs34208922
NM_000501.4(ELN):c.*659G>C rs8326
NM_000501.4(ELN):c.1096+12TG[16] rs10579871
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) rs2071307
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg) rs17855988
NM_000501.4(ELN):c.2086+5G>C rs111866046
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151
NM_000501.4(ELN):c.249C>T (p.Pro83=) rs565001805
NM_000501.4(ELN):c.427+8C>T rs55868272
NM_001278918.1(ELN):c.-38C>T rs41410045
NM_017617.5(NOTCH1):c.1441+7C>T rs9411208
NM_017617.5(NOTCH1):c.1670-9A>G rs3124603
NM_017617.5(NOTCH1):c.2588-4G>A rs3125001
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) rs2229974
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=) rs2229975

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