ClinVar Miner

List of variants studied for RASopathy by UCLA Clinical Genomics Center, UCLA

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) rs786201367
NM_002834.4(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_030662.3(MAP2K2):c.181A>G (p.Lys61Glu) rs730880517

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