ClinVar Miner

List of variants reported as likely pathogenic for RASopathy by Mendelics

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1188_1189del (p.Ile396fs) rs1597682729
NM_001042492.3(NF1):c.2251G>C (p.Gly751Arg) rs1567847681
NM_001042492.3(NF1):c.269T>A (p.Leu90Gln) rs1555605393
NM_001042492.3(NF1):c.4285A>T (p.Lys1429Ter) rs758915600
NM_001042492.3(NF1):c.4344_4345insCCT (p.Ser1448_Ile1449insPro) rs1597745583
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer) rs1597829906
NM_001042492.3(NF1):c.5079del (p.His1693fs) rs1597829969
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His) rs771529172
NM_001042492.3(NF1):c.5847del (p.Met1949fs) rs1597840055
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.4(RAF1):c.773C>G (p.Thr258Arg) rs1575573330
NM_004333.6(BRAF):c.1750C>T (p.Leu584Phe) rs1586015221
NM_004333.6(BRAF):c.2134G>A (p.Ala712Thr) rs1481562268
NM_004333.6(BRAF):c.2276G>A (p.Gly759Glu) rs1585930903
NM_004333.6(BRAF):c.644C>T (p.Ser215Phe) rs1586237312
NM_004333.6(BRAF):c.779G>A (p.Arg260His) rs1586213318
NM_005633.4(SOS1):c.1653_1655del (p.Arg552del) rs1572830219
NM_006767.4(LZTR1):c.1682G>A (p.Arg561His) rs970027059
NM_006767.4(LZTR1):c.685T>C (p.Cys229Arg) rs886041925

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