ClinVar Miner

List of variants reported as likely pathogenic for RASopathy by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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NM_000267.3(NF1):c.15del (p.Arg5fs) rs1057516197
NM_000267.3(NF1):c.2010del (p.Ala671fs)
NM_000267.3(NF1):c.2329T>G (p.Trp777Gly)
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728
NM_000267.3(NF1):c.3378_3381dup (p.Gly1128fs)
NM_000267.3(NF1):c.4481A>G (p.Gln1494Arg) rs1135402865

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