ClinVar Miner

List of variants in gene DGAT1 studied for digestive system disorder

Included ClinVar conditions (605):
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_012079.6(DGAT1):c.751+2T>C rs148665132 0.00014
NM_012079.6(DGAT1):c.676+1G>A rs782227374 0.00005
NM_012079.6(DGAT1):c.1187G>A (p.Arg396Gln) rs193169779 0.00004
NM_012079.6(DGAT1):c.1183C>T (p.Arg395Ter) rs372817613 0.00002
NM_012079.6(DGAT1):c.1374G>A (p.Trp458Ter) rs782739596 0.00002
NM_012079.6(DGAT1):c.805C>T (p.Arg269Cys) rs373363244 0.00002
NM_012079.6(DGAT1):c.1215_1216del (p.Phe408fs) rs781984305 0.00001
NM_012079.6(DGAT1):c.1311+1G>A rs371489225 0.00001
NM_012079.6(DGAT1):c.610C>T (p.Leu204Phe) rs782559118 0.00001
NM_012079.6(DGAT1):c.838C>T (p.Arg280Ter) rs1554847435 0.00001
NM_012079.6(DGAT1):c.981+1G>T rs781934305 0.00001
NM_012079.6(DGAT1):c.1246G>A (p.Glu416Lys)
NM_012079.6(DGAT1):c.1310A>G (p.Gln437Arg) rs1588680049
NM_012079.6(DGAT1):c.1462del (p.Ala488fs) rs1554847009
NM_012079.6(DGAT1):c.314T>C (p.Leu105Pro)
NM_012079.6(DGAT1):c.602A>G (p.His201Arg) rs2130520497
NM_012079.6(DGAT1):c.629_631del (p.Ser210del) rs782577883
NM_012079.6(DGAT1):c.634C>T (p.Arg212Cys) rs150434452
NM_012079.6(DGAT1):c.719_737dup (p.Leu247fs) rs2130518888
NM_012079.6(DGAT1):c.884T>C (p.Leu295Pro) rs863225093
NM_012079.6(DGAT1):c.889del (p.Gln297fs) rs1200919286

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