ClinVar Miner

List of variants in gene DDHD1 reported as uncertain significance for not provided

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Gene type:
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001160148.2(DDHD1):c.941A>G (p.Asn314Ser) rs148836546 0.00081
NM_001160148.2(DDHD1):c.2408A>G (p.His803Arg) rs144016130 0.00073
NM_001160148.2(DDHD1):c.100T>G (p.Phe34Val) rs771285016 0.00028
NM_001160148.2(DDHD1):c.976G>C (p.Asp326His) rs145456012 0.00022
NM_001160148.2(DDHD1):c.1120C>A (p.Gln374Lys) rs143813159 0.00016
NM_001160148.2(DDHD1):c.2432C>G (p.Ser811Cys) rs193261227 0.00007
NM_001160148.2(DDHD1):c.513C>G (p.Phe171Leu) rs768701113 0.00006
NM_001160148.2(DDHD1):c.1529T>C (p.Leu510Pro) rs755632915 0.00003
NM_001160148.2(DDHD1):c.1895G>A (p.Arg632His) rs749263468 0.00003
NM_001160148.2(DDHD1):c.322_327dup (p.Ser108_Gly109dup) rs747912386 0.00003
NM_001160148.2(DDHD1):c.1277A>G (p.Lys426Arg) rs764461965 0.00002
NM_001160148.2(DDHD1):c.19G>A (p.Gly7Arg) rs1052951644 0.00002
NM_001160148.2(DDHD1):c.2063A>G (p.Asn688Ser) rs151150383 0.00002
NM_001160148.2(DDHD1):c.395G>T (p.Gly132Val) rs1225521937 0.00002
NM_001160148.2(DDHD1):c.1378A>C (p.Lys460Gln) rs775155578 0.00001
NM_001160148.2(DDHD1):c.1646G>A (p.Gly549Asp) rs746217229 0.00001
NM_001160148.2(DDHD1):c.1713G>T (p.Trp571Cys) rs1402569521 0.00001
NM_001160148.2(DDHD1):c.184G>A (p.Glu62Lys) rs1370611484 0.00001
NM_001160148.2(DDHD1):c.2300G>A (p.Arg767His) rs752532276 0.00001
NM_001160148.2(DDHD1):c.2649C>T (p.Phe883=) rs374202355 0.00001
NM_001160148.2(DDHD1):c.472G>A (p.Glu158Lys) rs1349590589 0.00001
NM_001160148.2(DDHD1):c.743T>C (p.Met248Thr) rs759392241 0.00001
GRCh37/hg19 14q22.1(chr14:53449334-53514442)x3
GRCh37/hg19 14q22.1(chr14:53509899-53549524)x3
GRCh37/hg19 14q22.1(chr14:53553310-53731933)x3
NM_001160148.2(DDHD1):c.148G>A (p.Asp50Asn) rs775721432
NM_001160148.2(DDHD1):c.1603T>G (p.Ser535Ala) rs1555331568
NM_001160148.2(DDHD1):c.1624A>G (p.Ile542Val)
NM_001160148.2(DDHD1):c.1709G>A (p.Arg570Gln) rs114715404
NM_001160148.2(DDHD1):c.1780GAA[1] (p.Glu595del) rs772636180
NM_001160148.2(DDHD1):c.2408A>T (p.His803Leu) rs144016130
NM_001160148.2(DDHD1):c.341C>T (p.Ser114Phe) rs753310279
NM_001160148.2(DDHD1):c.519G>C (p.Lys173Asn)
NM_001160148.2(DDHD1):c.53GCG[6] (p.Gly22dup) rs752119831
NM_001160148.2(DDHD1):c.637G>C (p.Asp213His) rs150441319

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