ClinVar Miner

List of variants in gene DDHD2 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_015214.3(DDHD2):c.1130C>T (p.Ser377Leu) rs145943165 0.00036
NM_015214.3(DDHD2):c.1744A>T (p.Met582Leu) rs375064450 0.00009
NM_015214.3(DDHD2):c.277T>C (p.Leu93=) rs544728429 0.00009
NM_015214.3(DDHD2):c.628C>A (p.Pro210Thr) rs376771682 0.00006
NM_015214.3(DDHD2):c.1009A>C (p.Arg337=) rs778628163 0.00003
NM_015214.3(DDHD2):c.1215C>T (p.Ile405=) rs1554514590 0.00001
NM_015214.3(DDHD2):c.1448T>C (p.Val483Ala) rs1258523026 0.00001
NM_015214.3(DDHD2):c.1648A>G (p.Met550Val) rs187350175 0.00001
NM_015214.3(DDHD2):c.268G>A (p.Asp90Asn) rs1346496290 0.00001
NM_015214.3(DDHD2):c.1154G>A (p.Gly385Glu) rs1805760221
NM_015214.3(DDHD2):c.1924A>G (p.Lys642Glu) rs77715495
NM_015214.3(DDHD2):c.226_227delinsTA (p.Gly76Tyr) rs797045521
NM_015214.3(DDHD2):c.387G>C (p.Ser129=) rs766794813
NM_015214.3(DDHD2):c.699C>T (p.Ser233=) rs560050475
NM_015214.3(DDHD2):c.884G>A (p.Arg295His) rs561561545

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