ClinVar Miner

List of variants in gene combination PRSS48, SH3D19

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_183375.5(PRSS48):c.532C>T (p.Arg178Cys) rs369822008 0.00013
NM_183375.5(PRSS48):c.125A>T (p.Gln42Leu) rs750286962 0.00011
NM_183375.5(PRSS48):c.454G>A (p.Gly152Arg) rs188453537 0.00010
NM_183375.5(PRSS48):c.343G>A (p.Val115Ile) rs192149727 0.00009
NM_183375.5(PRSS48):c.473A>G (p.Glu158Gly) rs775291733 0.00005
NM_183375.5(PRSS48):c.533G>A (p.Arg178His) rs372546589 0.00005
NM_183375.5(PRSS48):c.400T>C (p.Cys134Arg) rs368123924 0.00004
NM_183375.5(PRSS48):c.254C>T (p.Ser85Leu) rs372652981 0.00003
NM_183375.5(PRSS48):c.539C>G (p.Ala180Gly) rs375153519 0.00003
NM_183375.5(PRSS48):c.503T>C (p.Leu168Pro) rs564771751 0.00002
NM_183375.5(PRSS48):c.596T>C (p.Ile199Thr) rs765984559 0.00002
NM_183375.5(PRSS48):c.79C>T (p.Arg27Cys) rs776335390 0.00002
NM_183375.5(PRSS48):c.293A>G (p.Tyr98Cys) rs776207705 0.00001
NM_183375.5(PRSS48):c.844G>A (p.Val282Ile) rs777014882 0.00001
GRCh37/hg19 4q31.3(chr4:152103682-152253126)x1
NM_183375.5(PRSS48):c.103G>A (p.Ala35Thr)
NM_183375.5(PRSS48):c.118C>A (p.Pro40Thr) rs778098061
NM_183375.5(PRSS48):c.127_131del (p.Val43fs) rs77216366
NM_183375.5(PRSS48):c.133C>G (p.Leu45Val)
NM_183375.5(PRSS48):c.163G>C (p.Gly55Arg) rs369657708
NM_183375.5(PRSS48):c.175A>G (p.Ser59Gly)
NM_183375.5(PRSS48):c.203A>G (p.His68Arg)
NM_183375.5(PRSS48):c.26C>T (p.Thr9Met)
NM_183375.5(PRSS48):c.283G>A (p.Val95Met) rs375690535
NM_183375.5(PRSS48):c.32T>C (p.Leu11Pro)
NM_183375.5(PRSS48):c.354G>T (p.Leu118Phe) rs1774321194
NM_183375.5(PRSS48):c.457T>C (p.Trp153Arg)
NM_183375.5(PRSS48):c.511G>A (p.Ala171Thr) rs2547265996
NM_183375.5(PRSS48):c.53T>A (p.Val18Glu)
NM_183375.5(PRSS48):c.565G>A (p.Gly189Ser)
NM_183375.5(PRSS48):c.575T>C (p.Leu192Ser)
NM_183375.5(PRSS48):c.590C>T (p.Pro197Leu)
NM_183375.5(PRSS48):c.599A>G (p.Lys200Arg) rs773939692
NM_183375.5(PRSS48):c.634A>G (p.Met212Val)
NM_183375.5(PRSS48):c.762T>A (p.Asn254Lys) rs1378569512
NM_183375.5(PRSS48):c.82G>A (p.Val28Ile)
NM_183375.5(PRSS48):c.837C>A (p.Phe279Leu)
NM_183375.5(PRSS48):c.869G>A (p.Arg290His)
NM_183375.5(PRSS48):c.928G>A (p.Val310Ile) rs1775326425
NM_183375.5(PRSS48):c.938T>C (p.Ile313Thr)

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