ClinVar Miner

List of variants in gene FTCD reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_206965.2(FTCD):c.54+12G>A rs2277820 0.27049
NM_206965.2(FTCD):c.417G>A (p.Pro139=) rs61729391 0.07442
NM_206965.2(FTCD):c.*19C>T rs79622089 0.06920
NM_206965.2(FTCD):c.1313C>T (p.Ala438Val) rs61735841 0.06786
NM_206965.2(FTCD):c.452A>T (p.Lys151Met) rs116089237 0.02538
NM_206965.2(FTCD):c.906+15C>T rs76474184 0.01274
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter) rs149266909 0.00116
NM_206965.2(FTCD):c.430G>A (p.Gly144Arg) rs138139105 0.00022
NM_206965.2(FTCD):c.1448C>T (p.Ala483Val) rs145609043 0.00016
NM_206965.2(FTCD):c.677T>C (p.Leu226Pro) rs149445900 0.00012
NM_206965.2(FTCD):c.236A>C (p.Gln79Pro) rs775726030 0.00006
NM_206965.2(FTCD):c.1480G>A (p.Ala494Thr) rs398124233 0.00003
NM_206965.2(FTCD):c.197C>T (p.Ala66Val) rs199867833 0.00002
NM_206965.2(FTCD):c.274C>T (p.Pro92Ser) rs749149640 0.00001
NM_206965.2(FTCD):c.424C>T (p.Arg142Trp) rs746980247 0.00001
NM_206965.2(FTCD):c.1366dup (p.Glu456fs) rs777099958
NM_206965.2(FTCD):c.1392C>G (p.Ala464=) rs1047179
NM_206965.2(FTCD):c.1583A>C (p.Gln528Pro) rs727503938
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234

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