ClinVar Miner

List of variants studied for RASopathy by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_005188.3(CBL):c.1095+19G>T rs2510152
NM_030662.4(MAP2K2):c.660C>A (p.Ile220=) rs10250
NM_030662.4(MAP2K2):c.919+12A>G rs350911
NM_152594.3(SPRED1):c.1044T>C (p.Val348=) rs3751526
NM_152594.3(SPRED1):c.291G>A (p.Lys97=) rs7182445
NM_152594.3(SPRED1):c.424-18G>A rs7179118
NM_152594.3(SPRED1):c.424-8C>A rs7180446

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