ClinVar Miner

List of variants in gene combination CACNA2D4, LRTM2 reported as uncertain significance

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001039029.3(LRTM2):c.166G>A (p.Gly56Ser) rs140244300 0.00048
NM_001039029.3(LRTM2):c.349A>G (p.Asn117Asp) rs143277357 0.00015
NM_001039029.3(LRTM2):c.196G>A (p.Val66Met) rs370265892 0.00010
NM_001039029.3(LRTM2):c.265G>A (p.Ala89Thr) rs145308565 0.00007
NM_001039029.3(LRTM2):c.409C>T (p.Arg137Trp) rs140500468 0.00005
NM_001039029.3(LRTM2):c.44C>T (p.Ala15Val) rs368354192 0.00005
NM_001039029.3(LRTM2):c.844G>A (p.Gly282Arg) rs760133119 0.00004
NM_001039029.3(LRTM2):c.898C>T (p.Arg300Trp) rs202193340 0.00004
NM_001039029.3(LRTM2):c.287G>A (p.Arg96Gln) rs750586006 0.00003
NM_001039029.3(LRTM2):c.242G>C (p.Ser81Thr) rs1490662252 0.00002
NM_001039029.3(LRTM2):c.451G>A (p.Gly151Ser) rs767271468 0.00002
NM_001039029.3(LRTM2):c.106C>T (p.Leu36Phe) rs1864597689 0.00001
NM_001039029.3(LRTM2):c.402C>A (p.Asp134Glu) rs550882227 0.00001
NM_001039029.3(LRTM2):c.52T>C (p.Trp18Arg) rs1158232995 0.00001
GRCh37/hg19 12p13.33(chr12:1944712-1985274)x1
GRCh37/hg19 12p13.33(chr12:1944712-1986237)x1
GRCh37/hg19 12p13.33(chr12:1944805-1986237)x1
NM_001039029.3(LRTM2):c.102G>T (p.Glu34Asp)
NM_001039029.3(LRTM2):c.1066C>A (p.Pro356Thr)
NM_001039029.3(LRTM2):c.1081G>C (p.Glu361Gln) rs769299567
NM_001039029.3(LRTM2):c.199C>G (p.Pro67Ala)
NM_001039029.3(LRTM2):c.202G>C (p.Ala68Pro)
NM_001039029.3(LRTM2):c.212G>A (p.Arg71Gln)
NM_001039029.3(LRTM2):c.244G>A (p.Ala82Thr)
NM_001039029.3(LRTM2):c.269A>C (p.Asn90Thr) rs1162405704
NM_001039029.3(LRTM2):c.396C>A (p.Asp132Glu) rs1864615660
NM_001039029.3(LRTM2):c.419C>G (p.Pro140Arg)
NM_001039029.3(LRTM2):c.445A>C (p.Ile149Leu) rs375953804
NM_001039029.3(LRTM2):c.484G>A (p.Gly162Arg) rs377675302
NM_001039029.3(LRTM2):c.509C>G (p.Ser170Trp) rs750113466
NM_001039029.3(LRTM2):c.542G>A (p.Arg181Gln) rs1246612489
NM_001039029.3(LRTM2):c.574C>A (p.Leu192Met)
NM_001039029.3(LRTM2):c.664C>T (p.Arg222Cys)
NM_001039029.3(LRTM2):c.763G>A (p.Asp255Asn)
NM_001039029.3(LRTM2):c.829G>A (p.Ala277Thr)
NM_001039029.3(LRTM2):c.905C>A (p.Ala302Glu) rs776249407
NM_001039029.3(LRTM2):c.955G>A (p.Gly319Ser)

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