ClinVar Miner

List of variants reported as likely benign for RASopathy by Mendelics

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00220
NM_006495.4(EVI2B):c.1019C>G (p.Pro340Arg) rs17884293 0.00215
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001042492.3(NF1):c.2850+17T>C rs1410636379 0.00034
NM_005188.4(CBL):c.1287C>T (p.Ile429=) rs148368481 0.00031
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00019
NM_030662.4(MAP2K2):c.818A>G (p.Lys273Arg) rs539555837 0.00003
NM_001042492.3(NF1):c.6642+42T>C rs760581466 0.00001
NM_001042492.3(NF1):c.3198-6_3198-1del rs1597718651
NM_001042492.3(NF1):c.3199G>T (p.Asp1067Tyr) rs1597718721
NM_001042492.3(NF1):c.3204G>T (p.Leu1068Phe) rs1258842007
NM_001042492.3(NF1):c.4174-8_4174-6del rs751729752
NM_001042492.3(NF1):c.61-1G>T rs1263745475
NM_001042492.3(NF1):c.64C>T (p.Pro22Ser) rs1597625794
NM_001042492.3(NF1):c.8377+6509A>T rs1343721620
NM_004333.6(BRAF):c.1310G>A (p.Arg437Gln) rs998233805
NM_014210.4(EVI2A):c.386ACA[3] (p.Asn132del) rs773381280

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