ClinVar Miner

List of variants in gene DSPP reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_014208.3(DSPP):c.*17G>A rs2615489 0.87779
NM_014208.3(DSPP):c.202A>T (p.Arg68Trp) rs36094464 0.14530
NM_014208.3(DSPP):c.727G>A (p.Asp243Asn) rs3750025 0.04053
NM_014208.3(DSPP):c.1060C>T (p.Arg354Cys) rs61731011 0.00345
NM_014208.3(DSPP):c.1073G>A (p.Arg358Lys) rs201110163 0.00063
NM_014208.3(DSPP):c.768C>T (p.Asp256=) rs374400491 0.00055
NM_014208.3(DSPP):c.1791T>C (p.Asp597=) rs372743728 0.00038
NM_014208.3(DSPP):c.3660C>A (p.Ser1220Arg) rs778585862 0.00032
NM_014208.3(DSPP):c.2874T>C (p.Asn958=) rs374607352 0.00010
NM_014208.3(DSPP):c.3174T>C (p.Ser1058=) rs755899195 0.00006
NM_014208.3(DSPP):c.197G>A (p.Arg66Lys) rs756455629 0.00003
NM_014208.3(DSPP):c.2688T>C (p.Asp896=) rs794727724 0.00002
NM_014208.3(DSPP):c.3516C>T (p.Ser1172=) rs775371857 0.00001
NM_014208.3(DSPP):c.1063G>A (p.Val355Ile) rs61738515
NM_014208.3(DSPP):c.1776C>T (p.Asp592=) rs886043306
NM_014208.3(DSPP):c.214A>G (p.Thr72Ala) rs755468936
NM_014208.3(DSPP):c.2673C>T (p.Ser891=) rs767834416
NM_014208.3(DSPP):c.2679C>T (p.Asp893=) rs794727725
NM_014208.3(DSPP):c.2781T>C (p.Ser927=) rs794727727
NM_014208.3(DSPP):c.2784T>C (p.Asn928=) rs794727728
NM_014208.3(DSPP):c.2796C>T (p.Asn932=) rs794727726
NM_014208.3(DSPP):c.2859T>C (p.Ser953=) rs772482317
NM_014208.3(DSPP):c.2883C>T (p.Asp961=) rs794727723

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