ClinVar Miner

List of variants studied for RASopathy by GenomeConnect, ClinGen

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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NM_000267.3(NF1):c.1588G>A (p.Val530Ile) rs145191978
NM_000267.3(NF1):c.1801_1803del (p.Arg601del) rs1555613421
NM_000267.3(NF1):c.7486C>T (p.Arg2496Ter) rs866445127
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556
NM_002524.5(NRAS):c.317C>T (p.Ser106Leu) rs797045795
NM_005188.4(CBL):c.1096-1G>T rs397517076
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006939.4(SOS2):c.3530C>T (p.Pro1177Leu) rs1566814839
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_033360.4(KRAS):c.512T>C (p.Ile171Thr) rs1057517885

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