ClinVar Miner

List of variants in gene ROBO1 studied for congenital anomaly of cardiovascular system

Included ClinVar conditions (334):
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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002941.4(ROBO1):c.355C>T (p.Arg119Ter) rs1017845770 0.00001
NM_002941.4(ROBO1):c.928C>T (p.Arg310Ter) rs1431830142 0.00001
GRCh37/hg19 3p12.3(chr3:78653578-79071345)x1
NM_002941.4(ROBO1):c.1420C>T (p.Leu474Phe) rs1707986653
NM_002941.4(ROBO1):c.2840-1G>C rs1706274257
NM_002941.4(ROBO1):c.3503_3505dup (p.Gly1168dup) rs148625921
NM_002941.4(ROBO1):c.4786AAT[1] (p.Asn1597del) rs1703092518

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