ClinVar Miner

List of variants reported as pathogenic for Costello syndrome

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_005343.4(HRAS):c.108_110dup (p.Glu37dup) rs398122809
NM_005343.4(HRAS):c.110_111+1dup rs398122808
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) rs121917758
NM_005343.4(HRAS):c.179G>A (p.Gly60Asp) rs730880460
NM_005343.4(HRAS):c.179G>T (p.Gly60Val) rs730880460
NM_005343.4(HRAS):c.186_206dup (p.Glu62_Arg68dup) rs1554884966
NM_005343.4(HRAS):c.187G>A (p.Glu63Lys) rs121917756
NM_005343.4(HRAS):c.187_207dup (p.Glu63_Asp69dup) rs587777239
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.350A>G (p.Lys117Arg) rs104894227
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) rs104894230
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) rs104894230
NM_005343.4(HRAS):c.35_36delinsTT (p.Gly12Val) rs727503094
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.388G>C (p.Ala130Pro) rs1564788957
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr) rs104894231
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005343.4(HRAS):c.466T>C (p.Phe156Leu) rs2133982557
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys) rs121917757
NM_176795.5(HRAS):c.488_497del (p.Leu163fs) rs764755556

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