ClinVar Miner

List of variants in gene DCLRE1C studied for not specified

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001033855.3(DCLRE1C):c.643C>T (p.Leu215=) rs7076862 0.42876
NM_001033855.3(DCLRE1C):c.780+10C>T rs35927251 0.17583
NM_001033855.3(DCLRE1C):c.728A>G (p.His243Arg) rs12768894 0.14770
NM_001033855.3(DCLRE1C):c.362+86T>C rs12245497 0.09353
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642 0.09351
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00940
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676 0.00441
NM_001033855.3(DCLRE1C):c.1503T>C (p.Asp501=) rs41300670 0.00272
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163 0.00215
NM_001033855.3(DCLRE1C):c.1008C>T (p.Asn336=) rs115524993 0.00209
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn) rs113870881 0.00202
NM_001033855.3(DCLRE1C):c.36A>C (p.Pro12=) rs148108773 0.00113
NM_001033855.3(DCLRE1C):c.*4T>C rs377639023 0.00101
NM_001033855.3(DCLRE1C):c.985T>A (p.Leu329Met) rs41299658 0.00071
NM_001033855.3(DCLRE1C):c.1894G>A (p.Glu632Lys) rs61757205 0.00024
NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu) rs757316102 0.00002
NM_001033855.3(DCLRE1C):c.251C>G (p.Ser84Cys) rs747849702 0.00001
NM_001033855.3(DCLRE1C):c.328C>G (p.Leu110Val) rs774239837 0.00001
NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr) rs1317003987 0.00001
NM_001033855.3(DCLRE1C):c.756G>C (p.Gln252His) rs1249898599 0.00001
NC_000010.10:g.(14981869_14987103)_(14996096_?)dup
NC_000010.10:g.(14981869_14987103)_(14996432_?)dup
NM_001033855.3(DCLRE1C):c.1119A>C (p.Gly373=) rs1554780259
NM_001033855.3(DCLRE1C):c.1679dup (p.Leu560fs) rs2491625001
NM_001033855.3(DCLRE1C):c.1696_1699dup (p.Ser567fs) rs762761194
NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs) rs760288938
NM_001033855.3(DCLRE1C):c.2050_2053del (p.Lys684fs) rs915913541
NM_001033855.3(DCLRE1C):c.401C>A (p.Thr134Lys)

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