ClinVar Miner

Variants in gene PROM1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 16
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HGVS dbSNP gnomAD frequency
NM_006017.3(PROM1):c.1345G>A (p.Val449Met) rs200620291 0.00152
NM_006017.3(PROM1):c.1469G>A (p.Ser490Asn) rs201027172 0.00069
NM_006017.3(PROM1):c.1610A>G (p.Asp537Gly) rs200545555 0.00065
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly) rs62617075 0.00065
NM_006017.3(PROM1):c.914C>T (p.Pro305Leu) rs142245630 0.00048
NM_006017.3(PROM1):c.2271C>T (p.Ile757=) rs375986111 0.00022
NM_006017.3(PROM1):c.181A>G (p.Ile61Val) rs201701647 0.00021
NM_006017.3(PROM1):c.2319C>T (p.Thr773=) rs185335345 0.00009
NM_006017.3(PROM1):c.376G>A (p.Val126Met) rs199556426 0.00009
NM_006017.3(PROM1):c.321A>C (p.Ala107=) rs371975235 0.00008
NM_006017.3(PROM1):c.1301+3G>A rs373623517 0.00006
NM_006017.3(PROM1):c.1344C>T (p.Ile448=) rs147174580 0.00005
NM_006017.3(PROM1):c.1320C>T (p.Val440=) rs765602610 0.00001
NM_006017.3(PROM1):c.1856A>G (p.Gln619Arg) rs905919709 0.00001
NM_006017.3(PROM1):c.677C>T (p.Ala226Val) rs376198840 0.00001
NM_006017.3(PROM1):c.2514-4A>G rs1236769724

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