ClinVar Miner

Variants in gene HPS1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 17
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HGVS dbSNP gnomAD frequency
NM_000195.5(HPS1):c.11T>C (p.Val4Ala) rs58548334 0.03653
NM_000195.5(HPS1):c.255+9A>G rs78927693 0.00885
NM_000195.5(HPS1):c.779G>A (p.Arg260Gln) rs56378825 0.00761
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp) rs7914192 0.00426
NM_000195.5(HPS1):c.*12C>T rs112544050 0.00352
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765 0.00297
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp) rs142893758 0.00290
NM_000195.5(HPS1):c.1532+5G>A rs199874645 0.00273
NM_000195.5(HPS1):c.678C>T (p.Ala226=) rs539822608 0.00155
NM_000195.5(HPS1):c.669-17T>C rs201014731 0.00143
NM_000195.5(HPS1):c.557C>T (p.Ala186Val) rs1801286 0.00125
NM_000195.5(HPS1):c.1533-5G>C rs369658421 0.00016
NM_000195.5(HPS1):c.2052C>T (p.Ala684=) rs576260502 0.00002
NM_000195.5(HPS1):c.1057C>T (p.Leu353=) rs200850713 0.00001
NM_000195.5(HPS1):c.1397+7_1397+8delinsCT rs886038270
NM_000195.5(HPS1):c.848G>C (p.Gly283Ala) rs74154475

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