ClinVar Miner

List of variants in gene PDZD7 reported as uncertain significance for Inborn genetic diseases

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001195263.2(PDZD7):c.370C>T (p.Arg124Trp) rs114917863 0.00137
NM_001195263.2(PDZD7):c.1136G>A (p.Arg379Gln) rs199608117 0.00123
NM_001195263.2(PDZD7):c.1079G>A (p.Gly360Asp) rs571399433 0.00027
NM_001195263.2(PDZD7):c.1171A>G (p.Ile391Val) rs767734855 0.00027
NM_001195263.2(PDZD7):c.1996C>T (p.Pro666Ser) rs922807416 0.00026
NM_001195263.2(PDZD7):c.652G>A (p.Asp218Asn) rs142301501 0.00024
NM_001195263.2(PDZD7):c.874G>A (p.Gly292Ser) rs765091855 0.00009
NM_001195263.2(PDZD7):c.284G>A (p.Gly95Glu) rs370354874 0.00005
NM_001195263.2(PDZD7):c.448G>A (p.Val150Ile) rs770149702 0.00005
NM_001195263.2(PDZD7):c.2123G>A (p.Arg708His) rs372148542 0.00004
NM_001195263.2(PDZD7):c.2209C>A (p.Gln737Lys) rs868455840 0.00004
NM_001195263.2(PDZD7):c.1149G>C (p.Trp383Cys) rs754408663 0.00003
NM_001195263.2(PDZD7):c.728A>G (p.His243Arg) rs775052781 0.00003
NM_001195263.2(PDZD7):c.1379C>T (p.Ala460Val) rs776473503 0.00002
NM_001195263.2(PDZD7):c.262C>T (p.Arg88Trp) rs774063330 0.00002
NM_001195263.2(PDZD7):c.382T>C (p.Cys128Arg) rs746178505 0.00002
NM_001195263.2(PDZD7):c.509C>T (p.Pro170Leu) rs750975516 0.00002
NM_001195263.2(PDZD7):c.1094G>A (p.Arg365Gln) rs779994503 0.00001
NM_001195263.2(PDZD7):c.1372A>G (p.Lys458Glu) rs759513929 0.00001
NM_001195263.2(PDZD7):c.1571G>A (p.Arg524His) rs1178980761 0.00001
NM_001195263.2(PDZD7):c.1776C>G (p.Asp592Glu) rs1852421715 0.00001
NM_001195263.2(PDZD7):c.1936C>T (p.Arg646Trp) rs1192819099 0.00001
NM_001195263.2(PDZD7):c.364G>A (p.Ala122Thr) rs754203607 0.00001
NM_001195263.2(PDZD7):c.563G>A (p.Arg188His) rs781129674 0.00001
NM_001195263.2(PDZD7):c.626G>A (p.Arg209His) rs1018597313 0.00001
NM_001195263.2(PDZD7):c.742G>A (p.Glu248Lys) rs779421889 0.00001
NM_001195263.2(PDZD7):c.100G>C (p.Asp34His)
NM_001195263.2(PDZD7):c.1075C>T (p.Arg359Cys)
NM_001195263.2(PDZD7):c.1084G>C (p.Gly362Arg) rs536348228
NM_001195263.2(PDZD7):c.1097C>A (p.Ala366Glu) rs1216565026
NM_001195263.2(PDZD7):c.1115C>A (p.Thr372Lys) rs377765391
NM_001195263.2(PDZD7):c.1361C>G (p.Ser454Cys)
NM_001195263.2(PDZD7):c.1504C>T (p.Arg502Cys)
NM_001195263.2(PDZD7):c.1510G>A (p.Asp504Asn) rs1852803995
NM_001195263.2(PDZD7):c.1619C>T (p.Pro540Leu) rs1852592552
NM_001195263.2(PDZD7):c.16G>T (p.Ala6Ser)
NM_001195263.2(PDZD7):c.178G>C (p.Ala60Pro) rs2493052342
NM_001195263.2(PDZD7):c.187C>T (p.Pro63Ser) rs2493051837
NM_001195263.2(PDZD7):c.2480A>T (p.Asp827Val) rs1415971384
NM_001195263.2(PDZD7):c.278C>T (p.Pro93Leu) rs757518712
NM_001195263.2(PDZD7):c.287G>A (p.Arg96Lys)
NM_001195263.2(PDZD7):c.323G>A (p.Gly108Asp)
NM_001195263.2(PDZD7):c.341G>A (p.Ser114Asn)
NM_001195263.2(PDZD7):c.437T>A (p.Met146Lys)
NM_001195263.2(PDZD7):c.444C>G (p.Ser148Arg) rs200589947
NM_001195263.2(PDZD7):c.494G>T (p.Arg165Leu) rs149282897
NM_001195263.2(PDZD7):c.502C>T (p.Arg168Cys) rs1054390142
NM_001195263.2(PDZD7):c.598G>A (p.Asp200Asn) rs145910584
NM_001195263.2(PDZD7):c.626G>C (p.Arg209Pro) rs1018597313
NM_001195263.2(PDZD7):c.62C>G (p.Ser21Cys)
NM_001195263.2(PDZD7):c.763G>A (p.Gly255Arg) rs1853127598
NM_001195263.2(PDZD7):c.884C>G (p.Pro295Arg)
NM_001195263.2(PDZD7):c.923A>G (p.Asp308Gly)
NM_001195263.2(PDZD7):c.925C>G (p.Arg309Gly)
NM_001195263.2(PDZD7):c.926G>A (p.Arg309Gln) rs528381893
NM_001195263.2(PDZD7):c.926G>C (p.Arg309Pro) rs528381893
NM_001195263.2(PDZD7):c.944T>C (p.Leu315Pro)

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