ClinVar Miner

List of variants in gene PREPL reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001171613.2(PREPL):c.1595A>G (p.Lys532Arg) rs111438719 0.00218
NM_001171613.2(PREPL):c.687A>G (p.Glu229=) rs113272276 0.00209
NM_001171613.2(PREPL):c.1155C>G (p.Leu385=) rs149866553 0.00012
NM_001171613.2(PREPL):c.329T>C (p.Phe110Ser) rs777176046 0.00008
NM_001171613.2(PREPL):c.1455G>A (p.Glu485=) rs376716463 0.00006
NM_001171613.2(PREPL):c.40C>T (p.Gln14Ter) rs200761047 0.00005
NM_001171613.2(PREPL):c.413G>A (p.Cys138Tyr) rs1374457044 0.00001
NM_001171613.2(PREPL):c.344G>T (p.Ser115Ile) rs1377292198

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