ClinVar Miner

List of variants in gene ARV1 studied for Inborn genetic diseases

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_022786.3(ARV1):c.656A>C (p.Asn219Thr) rs141782810 0.00009
NM_022786.3(ARV1):c.692G>A (p.Arg231His) rs368169867 0.00005
NM_022786.3(ARV1):c.179C>A (p.Ser60Tyr) rs141851104 0.00003
NM_022786.3(ARV1):c.502A>G (p.Met168Val) rs376937598 0.00003
NM_022786.3(ARV1):c.655A>G (p.Asn219Asp) rs767939327 0.00003
NM_022786.3(ARV1):c.354G>C (p.Gln118His) rs777737376 0.00002
NM_022786.3(ARV1):c.759G>C (p.Gln253His) rs1189279824 0.00002
NM_022786.3(ARV1):c.217C>T (p.Pro73Ser) rs749512504 0.00001
NM_022786.3(ARV1):c.712G>A (p.Val238Met) rs1347711366 0.00001
NM_022786.3(ARV1):c.761G>A (p.Ser254Asn) rs772256029 0.00001
NM_022786.3(ARV1):c.415G>A (p.Asp139Asn)
NM_022786.3(ARV1):c.427A>G (p.Met143Val)
NM_022786.3(ARV1):c.475T>A (p.Phe159Ile) rs1679344143
NM_022786.3(ARV1):c.545C>T (p.Ala182Val) rs1679348409
NM_022786.3(ARV1):c.646C>T (p.Leu216Phe) rs149704278
NM_022786.3(ARV1):c.667A>G (p.Ile223Val) rs201927559
NM_022786.3(ARV1):c.674-2A>T rs1192627743
NM_022786.3(ARV1):c.743T>C (p.Met248Thr)

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