ClinVar Miner

List of variants in gene combination GOSR2, LRRC37A2 reported as uncertain significance by GeneDx

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_004287.5(GOSR2):c.322A>C (p.Thr108Pro) rs138510884 0.00108
NM_004287.5(GOSR2):c.509A>G (p.Asn170Ser) rs150907052 0.00031
NM_004287.5(GOSR2):c.-1C>T rs574045746 0.00013
NM_004287.5(GOSR2):c.393G>T (p.Gln131His) rs182039780 0.00006
NM_004287.5(GOSR2):c.388C>T (p.Leu130Phe) rs137975476 0.00005
NM_004287.5(GOSR2):c.547G>A (p.Glu183Lys) rs144472114 0.00005
NM_004287.5(GOSR2):c.538C>T (p.Arg180Trp) rs1305687118 0.00003
NM_004287.5(GOSR2):c.8C>A (p.Pro3His) rs1131691533 0.00003
NM_004287.5(GOSR2):c.364G>A (p.Glu122Lys) rs374613085 0.00001
NM_004287.5(GOSR2):c.541C>G (p.Leu181Val) rs772342696 0.00001
NM_004287.5(GOSR2):c.94+4A>G rs796052540 0.00001
NM_004287.5(GOSR2):c.448G>A (p.Gly150Arg) rs2146973883
NM_004287.5(GOSR2):c.463A>G (p.Arg155Gly) rs2088086993
NM_004287.5(GOSR2):c.53G>C (p.Cys18Ser) rs758268045
NM_004287.5(GOSR2):c.557_584del (p.Ala186fs) rs796052541
NM_004287.5(GOSR2):c.587G>C (p.Gly196Ala) rs2147051308
NM_004287.5(GOSR2):c.618_623delinsACCTAGGGGAAACAAGATGTAGTGCTATTGCCGATAACAAGTAAGATTTTCCACACTACAGCTGGGTGTTTCTCTTTTCTAAAGTGAGGCCAGTGTTATTTCCCGGGAGTGTTCAGTCTTGACCCTAGTCACTGATTTTTTCTAGTTGTTAATAGAGTGGTTGGCTTTTAAGGTTCAGAGACTGTGGCTTGGCACCTGCGCCCAGGCTTTGTGGGCCTTTGCCCCTTAGAAAGTAGCTGTAGGCAAAGATTTGTGATTTTCCAACTTTGAG (p.Val207_Val208delinsProArgGlyAsnLysMetTer)
NM_004287.5(GOSR2):c.627G>C (p.Gln209His)
NM_004287.5(GOSR2):c.7C>T (p.Pro3Ser) rs12944167

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