ClinVar Miner

List of variants reported as pathogenic by Kids Research, The Children's Hospital at Westmead

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_006929.5(SKIC2):c.2662_2663del (p.Arg888fs) rs770099418 0.00009
NM_001303.4(COX10):c.1007A>T (p.Asp336Val) rs104894557 0.00006
NM_016011.4(MECR):c.772C>T (p.Arg258Trp) rs145192716 0.00006
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys) rs201408725 0.00006
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr) rs201941476 0.00003
NM_015713.5(RRM2B):c.48G>A (p.Glu16=) rs515726180 0.00002
NM_001171155.2(PET100):c.3G>C (p.Met1Ile) rs587777839 0.00001
NM_014049.5(ACAD9):c.797G>A (p.Arg266Gln) rs387907042 0.00001
NM_020964.3(EPG5):c.4327C>T (p.Gln1443Ter) rs374321183 0.00001
NM_032861.4(SERAC1):c.916C>T (p.Arg306Ter) rs780664696 0.00001
NC_012920.1:m.3243A>G rs199474657
NC_012920.1:m.8993T>G rs199476133
NM_005343.4(HRAS):c.350A>G (p.Lys117Arg) rs104894227
NM_006929.5(SKIC2):c.904C>T (p.Gln302Ter) rs751074844
NM_016011.5(MECR):c.247_250del (p.Asn83fs) rs1057519287
NM_033109.5(PNPT1):c.1818T>G (p.Val606=) rs1049082567
m.14709T>C rs121434453

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