ClinVar Miner

List of variants reported as likely pathogenic for Costello syndrome

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_005343.4(HRAS):c.171_185dup (p.Asp57_Gln61dup) rs2133990973
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005343.4(HRAS):c.175_176delinsCT (p.Ala59Leu) rs727504747
NM_005343.4(HRAS):c.178G>A (p.Gly60Ser) rs1589792804
NM_005343.4(HRAS):c.34G>C (p.Gly12Arg) rs104894229
NM_005343.4(HRAS):c.35_36delinsAA (p.Gly12Glu) rs727503094
NM_005343.4(HRAS):c.37G>A (p.Gly13Ser) rs104894228
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys) rs121917757
NM_176795.5(HRAS):c.488_497del (p.Leu163fs) rs764755556

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