ClinVar Miner

List of variants reported as not provided for RASopathy by GenomeConnect, ClinGen

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1588G>A (p.Val530Ile) rs145191978 0.00005
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_005188.4(CBL):c.1096-1G>T rs397517076 0.00001
NM_001042492.3(NF1):c.1801_1803del (p.Arg601del) rs1555613421
NM_001042492.3(NF1):c.1954C>T (p.Arg652Cys) rs786202436
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu) rs1567863004
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp) rs1060500316
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_002524.5(NRAS):c.317C>T (p.Ser106Leu) rs797045795
NM_004985.5(KRAS):c.451-5588T>C rs1057517885
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

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