ClinVar Miner

List of variants in gene PITPNM3 studied for Cone-Rod Dystrophy, Dominant

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_031220.4(PITPNM3):c.*3452del rs753516251 0.42097
NM_031220.4(PITPNM3):c.*3453_*3454insA rs879195140 0.38880
NM_031220.4(PITPNM3):c.2307-13del rs553739885 0.00205
NM_031220.4(PITPNM3):c.62G>A (p.Arg21Gln) rs200809389 0.00004
NM_031220.4(PITPNM3):c.*2024_*2025del rs570855209
NM_031220.4(PITPNM3):c.*2037del rs552929922
NM_031220.4(PITPNM3):c.*2183_*2184del rs886053294
NM_031220.4(PITPNM3):c.*2196AG[10] rs147582461
NM_031220.4(PITPNM3):c.*2196AG[7] rs147582461
NM_031220.4(PITPNM3):c.*2305_*2308del rs760233482
NM_031220.4(PITPNM3):c.*2306delinsAAGGAAGACAGAGAG rs886053291
NM_031220.4(PITPNM3):c.*2316GA[7] rs112833778
NM_031220.4(PITPNM3):c.*2316GA[8] rs112833778
NM_031220.4(PITPNM3):c.*2316GA[9] rs112833778
NM_031220.4(PITPNM3):c.*2336_*2337del rs144836655
NM_031220.4(PITPNM3):c.*2345AG[6] rs796340486
NM_031220.4(PITPNM3):c.*2363AG[7] rs886053289
NM_031220.4(PITPNM3):c.*2381AG[5] rs553650590
NM_031220.4(PITPNM3):c.*3445_*3446insT rs55984944
NM_031220.4(PITPNM3):c.*3446_*3452delinsTGGCGGGGG rs886053278
NM_031220.4(PITPNM3):c.*3447dup rs1555549918
NM_031220.4(PITPNM3):c.*3448_*3449insCGG rs886053279
NM_031220.4(PITPNM3):c.*3452_*3453del rs796279837
NM_031220.4(PITPNM3):c.*3453_*3454insC rs879195140
NM_031220.4(PITPNM3):c.*3455_*3456insT rs886053277
NM_031220.4(PITPNM3):c.*3456_*3457insT rs200905881
NM_031220.4(PITPNM3):c.*3463_*3464insCG rs1555549891
NM_031220.4(PITPNM3):c.*3464del rs750929247
NM_031220.4(PITPNM3):c.*3464dup rs750929247
NM_031220.4(PITPNM3):c.*3555del rs61555153
NM_031220.4(PITPNM3):c.*582dup rs57661669
NM_031220.4(PITPNM3):c.*959del rs560454526

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