ClinVar Miner

List of variants reported as uncertain significance for congenital anomaly of cardiovascular system by Phosphorus, Inc.

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825 0.00275
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_000256.3(MYBPC3):c.1445C>T (p.Ala482Val) rs370285346 0.00011
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys) rs193922385 0.00010
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr) rs727504355 0.00009
NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln) rs771180054 0.00002
NM_000257.4(MYH7):c.5279C>T (p.Thr1760Met) rs727505294 0.00001
NM_001148.6(ANK2):c.4502C>T (p.Pro1501Leu) rs201071074 0.00001
NM_000257.4(MYH7):c.745C>G (p.Arg249Gly) rs730880852
NM_001035.3(RYR2):c.13412G>C (p.Gly4471Ala) rs1553325274
NM_001276345.2(TNNT2):c.851+5G>C rs193922620
NM_005751.5(AKAP9):c.2284A>G (p.Lys762Glu) rs776287498

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