ClinVar Miner

List of variants in gene RFPL4A

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001145014.2(RFPL4A):c.43C>G (p.Leu15Val) rs202117713 0.00110
NM_001145014.2(RFPL4A):c.206C>T (p.Ala69Val) rs528943290 0.00026
NM_001145014.2(RFPL4A):c.392C>T (p.Ala131Val) rs1211925593 0.00005
NM_001145014.2(RFPL4A):c.841C>T (p.Pro281Ser) rs747431754 0.00001
NM_001145014.2(RFPL4A):c.844G>A (p.Val282Ile) rs1187964157 0.00001
NM_001145014.2(RFPL4A):c.107A>G (p.Asn36Ser)
NM_001145014.2(RFPL4A):c.196A>G (p.Lys66Glu)
NM_001145014.2(RFPL4A):c.248C>G (p.Ser83Cys) rs1416012315
NM_001145014.2(RFPL4A):c.294G>A (p.Met98Ile)
NM_001145014.2(RFPL4A):c.388C>A (p.Gln130Lys) rs200829886
NM_001145014.2(RFPL4A):c.392C>A (p.Ala131Asp) rs1211925593
NM_001145014.2(RFPL4A):c.428C>A (p.Thr143Asn) rs776691999
NM_001145014.2(RFPL4A):c.449G>A (p.Arg150His)
NM_001145014.2(RFPL4A):c.452A>G (p.His151Arg)
NM_001145014.2(RFPL4A):c.466G>A (p.Asp156Asn)
NM_001145014.2(RFPL4A):c.469G>A (p.Val157Met)
NM_001145014.2(RFPL4A):c.491A>G (p.Asp164Gly) rs754608648
NM_001145014.2(RFPL4A):c.527G>A (p.Gly176Glu)
NM_001145014.2(RFPL4A):c.533T>C (p.Ile178Thr)
NM_001145014.2(RFPL4A):c.569G>T (p.Gly190Val)
NM_001145014.2(RFPL4A):c.707G>A (p.Cys236Tyr)
NM_001145014.2(RFPL4A):c.742G>C (p.Glu248Gln)
NM_001145014.2(RFPL4A):c.763G>C (p.Ala255Pro)
NM_001145014.2(RFPL4A):c.772C>T (p.Arg258Cys)
NM_001145014.2(RFPL4A):c.804T>C (p.Ser268=)
NM_001145014.2(RFPL4A):c.835A>G (p.Ser279Gly)
NM_001145014.2(RFPL4A):c.841C>A (p.Pro281Thr)

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