ClinVar Miner

List of variants studied for congenital anomaly of the great arteries by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
GRCh37/hg19 1p36.21(chr1:13801823-14012604)
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter) rs1057518422
NM_001942.4(DSG1):c.604G>T (p.Glu202Ter) rs1057518788
NM_002052.5(GATA4):c.1273G>A (p.Asp425Asn) rs56208331
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004415.4(DSP):c.2528C>A (p.Ser843Ter) rs1057518920
NM_005633.3(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met) rs377294245

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