List of variants in gene PROM1 reported as uncertain significance for Cone-rod dystrophy 12

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 50

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HGVS	dbSNP	gnomAD frequency
NM_006017.3(PROM1):c.*1149A>G	rs543722299	0.00083
NM_006017.3(PROM1):c.*189A>G	rs537324748	0.00068
NM_006017.3(PROM1):c.-168G>A	rs180926533	0.00037
NM_006017.3(PROM1):c.556C>T (p.Arg186Trp)	rs369512467	0.00011
NM_006017.3(PROM1):c.-127A>G	rs886059206	0.00010
NM_006017.3(PROM1):c.*580T>A	rs1250583925	0.00006
NM_006017.3(PROM1):c.277-15C>T	rs372599685	0.00006
NM_006017.3(PROM1):c.1344C>T (p.Ile448=)	rs147174580	0.00005
NM_006017.3(PROM1):c.718G>A (p.Gly240Arg)	rs752543587	0.00005
NM_006017.3(PROM1):c.*1070A>G	rs886059195	0.00004
NM_006017.3(PROM1):c.155T>C (p.Ile52Thr)	rs778896066	0.00004
NM_006017.3(PROM1):c.1579-12A>C	rs370183490	0.00004
NM_006017.3(PROM1):c.1982T>C (p.Leu661Ser)	rs372632641	0.00002
NM_006017.3(PROM1):c.792G>A (p.Lys264=)	rs776605111	0.00002
NM_006017.3(PROM1):c.*198T>C	rs1713762475	0.00001
NM_006017.3(PROM1):c.*681C>G	rs947805890	0.00001
NM_006017.3(PROM1):c.*781G>A	rs1713636052	0.00001
NM_006017.3(PROM1):c.*963A>G	rs886059196	0.00001
NM_006017.3(PROM1):c.*985C>G	rs937617123	0.00001
NM_006017.3(PROM1):c.-148G>A	rs75531222	0.00001
NM_006017.3(PROM1):c.1002+5G>A	rs1196489060	0.00001
NM_006017.3(PROM1):c.1387T>C (p.Tyr463His)	rs1297490531	0.00001
NM_006017.3(PROM1):c.1578+9G>C	rs747638667	0.00001
NM_006017.3(PROM1):c.1717C>T (p.Leu573Phe)	rs886059201	0.00001
NM_006017.3(PROM1):c.2397A>G (p.Gly799=)	rs931618095	0.00001
NM_006017.3(PROM1):c.2551G>A (p.Val851Ile)	rs201910962	0.00001
NM_006017.3(PROM1):c.677C>T (p.Ala226Val)	rs376198840	0.00001
NM_006017.3(PROM1):c.706G>A (p.Val236Met)	rs536161084	0.00001
NM_006017.3(PROM1):c.*107G>T	rs1024479425
NM_006017.3(PROM1):c.*1143A>C	rs544424652
NM_006017.3(PROM1):c.*1160A>G	rs886059194
NM_006017.3(PROM1):c.*551A>T	rs886059197
NM_006017.3(PROM1):c.*640T>A	rs1713667197
NM_006017.3(PROM1):c.1036A>G (p.Asn346Asp)	rs1414948996
NM_006017.3(PROM1):c.105A>G (p.Glu35=)	rs886059205
NM_006017.3(PROM1):c.1218C>G (p.Leu406=)	rs886059203
NM_006017.3(PROM1):c.1271T>C (p.Leu424Ser)	rs886059202
NM_006017.3(PROM1):c.1279T>A (p.Leu427Met)	rs200710798
NM_006017.3(PROM1):c.1871G>A (p.Cys624Tyr)	rs886059200
NM_006017.3(PROM1):c.1954T>G (p.Tyr652Asp)	rs768320190
NM_006017.3(PROM1):c.2050C>G (p.Arg684Gly)	rs530749007
NM_006017.3(PROM1):c.2281-5C>G	rs777654968
NM_006017.3(PROM1):c.2373+13C>G	rs886059199
NM_006017.3(PROM1):c.2480T>C (p.Val827Ala)	rs886059198
NM_006017.3(PROM1):c.2489+8T>C	rs1433533825
NM_006017.3(PROM1):c.2508G>A (p.Met836Ile)	rs534529507
NM_006017.3(PROM1):c.250T>A (p.Tyr84Asn)	rs1734560540
NM_006017.3(PROM1):c.2540A>G (p.His847Arg)	rs1717178592
NM_006017.3(PROM1):c.380G>T (p.Gly127Val)	rs1733212554
NM_006017.3(PROM1):c.449A>G (p.Asn150Ser)	rs1733188880

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