ClinVar Miner

List of variants studied for RASopathy by Center of Genomic medicine, Geneva,University Hospital of Geneva

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_000267.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_000267.3(NF1):c.1392+1G>C
NM_000267.3(NF1):c.1721+1G>A rs1131691096
NM_000267.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_000267.3(NF1):c.2827A>T (p.Lys943Ter)
NM_000267.3(NF1):c.4180A>C (p.Asn1394His) rs1555618518
NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter) rs137854552
NM_000267.3(NF1):c.7909C>T (p.His2637Tyr) rs1555536868
NM_001042492.2(NF1):c.3250C>A (p.Pro1084Thr) rs1555614848
NM_001042492.2(NF1):c.6704+1G>T rs1060500376
NM_001042492.2(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_002834.4(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.4(PTPN11):c.228G>T (p.Glu76Asp) rs397507514
NM_002834.4(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.4(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.4(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_005633.3(SOS1):c.1654A>G (p.Arg552Gly) rs137852814

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