ClinVar Miner

List of variants reported as likely benign for Netherton syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_006846.4(SPINK5):c.2762A>G (p.Asn921Ser) rs73271166 0.01566
NM_006846.4(SPINK5):c.2241-6C>T rs190365795 0.00842
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_006846.4(SPINK5):c.2667-4G>A rs180955184 0.00542
NM_006846.4(SPINK5):c.3183G>A (p.Pro1061=) rs77756935 0.00345
NM_006846.4(SPINK5):c.1964G>A (p.Gly655Asp) rs142227576 0.00313
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00297
NM_006846.4(SPINK5):c.1605G>T (p.Val535=) rs201831966 0.00259
NM_006846.4(SPINK5):c.2795G>A (p.Arg932Lys) rs201942775 0.00145
NM_006846.4(SPINK5):c.402T>C (p.Ala134=) rs371877583 0.00015
NM_006846.4(SPINK5):c.1093-4G>A rs754019195 0.00006
NM_006846.4(SPINK5):c.2667-13_2667-12insTT rs1561704956 0.00001
NM_006846.4(SPINK5):c.3042T>C (p.Cys1014=) rs1237574831 0.00001
NM_006846.4(SPINK5):c.666+10C>T rs773205014 0.00001
NM_006846.4(SPINK5):c.1461T>C (p.Ala487=) rs750918436
NM_006846.4(SPINK5):c.1971T>C (p.Asp657=) rs1699884684
NM_006846.4(SPINK5):c.2190T>C (p.Asp730=) rs1754161817

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