List of variants in gene PROM1 reported as pathogenic

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: 110

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HGVS	dbSNP	gnomAD frequency
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)	rs140872693	0.00026
NM_006017.3(PROM1):c.2490-2A>G	rs375813885	0.00011
NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter)	rs137853907	0.00009
NM_006017.3(PROM1):c.1276dup (p.Thr426fs)	rs747800874	0.00008
NM_006017.3(PROM1):c.1301+2T>C	rs775957498	0.00004
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu)	rs761911901	0.00003
NM_006017.3(PROM1):c.652C>T (p.Gln218Ter)	rs374017889	0.00003
NM_006017.3(PROM1):c.303+1G>A	rs777673930	0.00002
NM_006017.3(PROM1):c.1142-1G>A	rs752619497	0.00001
NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter)	rs886037880	0.00001
NM_006017.3(PROM1):c.1209_1229del (p.Gln403_Ser410delinsHis)	rs777497868	0.00001
NM_006017.3(PROM1):c.1301G>A (p.Trp434Ter)	rs1461400697	0.00001
NM_006017.3(PROM1):c.1302G>A (p.Trp434Ter)	rs1340013236	0.00001
NM_006017.3(PROM1):c.1414C>T (p.Arg472Ter)	rs761152494	0.00001
NM_006017.3(PROM1):c.1579-1G>C	rs372513650	0.00001
NM_006017.3(PROM1):c.1579-2A>C	rs1472802723	0.00001
NM_006017.3(PROM1):c.1767+4A>G	rs1304065271	0.00001
NM_006017.3(PROM1):c.1984-1G>T	rs373680665	0.00001
NM_006017.3(PROM1):c.2077-521A>G	rs796051882	0.00001
NM_006017.3(PROM1):c.2110C>T (p.Arg704Cys)	rs1302809734	0.00001
NM_006017.3(PROM1):c.2130+2del	rs768303070	0.00001
NM_006017.3(PROM1):c.220+1G>C	rs779454059	0.00001
NM_006017.3(PROM1):c.303+1G>T	rs777673930	0.00001
NM_006017.3(PROM1):c.400C>T (p.Arg134Cys)	rs768526003	0.00001
NM_006017.3(PROM1):c.730C>T (p.Arg244Ter)	rs373331232	0.00001
NC_000004.11:g.(?_15993851)_(15995714_?)del
NC_000004.11:g.(?_16014878)_(16014981_?)del
NC_000004.11:g.(?_16034907)_(16037404_?)del
NC_000004.11:g.(?_16077290)_(16077529_?)del
NC_000004.12:g.(?_15992248)_(15994071_?)del
NC_000004.12:g.(?_16048828)_(16075906_?)del
NC_000004.12:g.(?_16075687)_(16075906_?)del
NM_006017.3(PROM1):c.1000C>T (p.Gln334Ter)
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)	rs137853006
NM_006017.3(PROM1):c.1150_1151del (p.Arg384fs)	rs1726238223
NM_006017.3(PROM1):c.1177_1178del (p.Ile393fs)	rs746174328
NM_006017.3(PROM1):c.1187dup (p.Thr397fs)
NM_006017.3(PROM1):c.1234del (p.Tyr412fs)	rs1460604134
NM_006017.3(PROM1):c.1282dup (p.Glu428fs)	rs2149249120
NM_006017.3(PROM1):c.1301+1G>A
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)	rs543698823
NM_006017.3(PROM1):c.139del (p.His47fs)	rs747512450
NM_006017.3(PROM1):c.1423_1424del (p.Val475fs)	rs1386427036
NM_006017.3(PROM1):c.1424T>A (p.Val475Asp)	rs2149234796
NM_006017.3(PROM1):c.1462G>T (p.Gly488Ter)	rs1560449207
NM_006017.3(PROM1):c.1500del (p.Ile500fs)	rs1482618215
NM_006017.3(PROM1):c.1539del (p.Lys513fs)
NM_006017.3(PROM1):c.1557C>G (p.Tyr519Ter)	rs137853907
NM_006017.3(PROM1):c.1578+1G>A	rs1553901823
NM_006017.3(PROM1):c.1579-3T>G	rs1355865032
NM_006017.3(PROM1):c.1628_1629del (p.Ser543fs)	rs1295259849
NM_006017.3(PROM1):c.1645_1648del (p.Lys549fs)	rs1722855407
NM_006017.3(PROM1):c.1648_1651del (p.Ser550fs)	rs2149169604
NM_006017.3(PROM1):c.1682+3A>G	rs1326022839
NM_006017.3(PROM1):c.1697dup (p.Asn566fs)	rs762078182
NM_006017.3(PROM1):c.1709_1710insAA (p.Tyr570Ter)	rs1721714409
NM_006017.3(PROM1):c.1709dup (p.Tyr570Ter)
NM_006017.3(PROM1):c.1710C>A (p.Tyr570Ter)	rs201644238
NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter)	rs137853005
NM_006017.3(PROM1):c.1744del (p.Ser582fs)
NM_006017.3(PROM1):c.1817dup (p.Asn606fs)
NM_006017.3(PROM1):c.1841del (p.Gly614fs)	rs886037612
NM_006017.3(PROM1):c.1855C>T (p.Gln619Ter)
NM_006017.3(PROM1):c.1877_1878del (p.Ile626fs)	rs1300041533
NM_006017.3(PROM1):c.1887_1890del (p.Met629fs)	rs1459317703
NM_006017.3(PROM1):c.1902C>G (p.Tyr634Ter)
NM_006017.3(PROM1):c.1911+1G>A
NM_006017.3(PROM1):c.1926del (p.Ala643fs)
NM_006017.3(PROM1):c.1946C>A (p.Ser649Ter)	rs761911901
NM_006017.3(PROM1):c.1956T>G (p.Tyr652Ter)	rs2149113303
NM_006017.3(PROM1):c.199C>T (p.Gln67Ter)	rs751460221
NM_006017.3(PROM1):c.2011A>T (p.Lys671Ter)
NM_006017.3(PROM1):c.2023C>T (p.Gln675Ter)	rs1324631413
NM_006017.3(PROM1):c.2050C>T (p.Arg684Ter)	rs530749007
NM_006017.3(PROM1):c.2170C>T (p.Gln724Ter)	rs1719307363
NM_006017.3(PROM1):c.2196del (p.Ser733fs)	rs1381481518
NM_006017.3(PROM1):c.2198_2199del (p.Ser733fs)	rs1177575798
NM_006017.3(PROM1):c.220+2T>A	rs2149585436
NM_006017.3(PROM1):c.2211+1G>A	rs1719285721
NM_006017.3(PROM1):c.2211+2T>C
NM_006017.3(PROM1):c.2215del (p.Thr739fs)	rs2149078995
NM_006017.3(PROM1):c.2250del (p.Phe750fs)
NM_006017.3(PROM1):c.2281-20_2281-11del	rs886037881
NM_006017.3(PROM1):c.2305A>T (p.Lys769Ter)	rs2149068325
NM_006017.3(PROM1):c.2329dup (p.Thr777fs)	rs2149068027
NM_006017.3(PROM1):c.2362_2372del (p.Ile788fs)	rs778618612
NM_006017.3(PROM1):c.2409del (p.Leu805fs)
NM_006017.3(PROM1):c.2414dup (p.Leu805fs)	rs1717541693
NM_006017.3(PROM1):c.241C>T (p.Gln81Ter)
NM_006017.3(PROM1):c.2461C>T (p.Arg821Ter)	rs766357803
NM_006017.3(PROM1):c.2489+1G>A
NM_006017.3(PROM1):c.253G>T (p.Glu85Ter)	rs1734559010
NM_006017.3(PROM1):c.262dup (p.Ile88fs)	rs1210104601
NM_006017.3(PROM1):c.303+1G>C
NM_006017.3(PROM1):c.386dup (p.Phe130fs)	rs1733210295
NM_006017.3(PROM1):c.436C>T (p.Arg146Ter)	rs780697796
NM_006017.3(PROM1):c.442A>T (p.Lys148Ter)	rs2149381577
NM_006017.3(PROM1):c.544C>T (p.Gln182Ter)
NM_006017.3(PROM1):c.622del (p.Thr208fs)	rs766246531
NM_006017.3(PROM1):c.630+1G>A
NM_006017.3(PROM1):c.630+1del
NM_006017.3(PROM1):c.631-2A>G
NM_006017.3(PROM1):c.631C>T (p.Gln211Ter)	rs1730695660
NM_006017.3(PROM1):c.642T>A (p.Tyr214Ter)	rs368213921
NM_006017.3(PROM1):c.734T>C (p.Leu245Pro)	rs1730403199
NM_006017.3(PROM1):c.754del (p.Val252fs)	rs2149331785
NM_006017.3(PROM1):c.784+1G>A	rs745704627
NM_006017.3(PROM1):c.784+2T>C	rs1578085426
NM_006017.3(PROM1):c.869del (p.Ser290fs)	rs1355802816
NM_006017.3(PROM1):c.981_987delinsCTGGCTTAGAG (p.Ser328fs)	rs1578054973

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