ClinVar Miner

List of variants in gene POMT1 reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP
NM_001077365.2(POMT1):c.1082+16G>A rs59515295
NM_001077365.2(POMT1):c.1083-180G>A rs7865761
NM_001077365.2(POMT1):c.1083-284dup rs75772133
NM_001077365.2(POMT1):c.1125C>T (p.His375=) rs35242383
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406
NM_001077365.2(POMT1):c.1272+249_1272+303del rs1564366378
NM_001077365.2(POMT1):c.1273-70C>T rs113628769
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) rs62620174
NM_001077365.2(POMT1):c.1366-61A>G rs1547768
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653
NM_001077365.2(POMT1):c.1487-130A>G rs2010635
NM_001077365.2(POMT1):c.1487-164G>A rs749591
NM_001077365.2(POMT1):c.1487-166G>A rs749590
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751
NM_001077365.2(POMT1):c.1698+107C>A rs2277153
NM_001077365.2(POMT1):c.1698+233C>T rs62580581
NM_001077365.2(POMT1):c.1698+48C>G rs2277152
NM_001077365.2(POMT1):c.1699-339A>G rs4740258
NM_001077365.2(POMT1):c.1825+198C>G rs7849433
NM_001077365.2(POMT1):c.1825+19del rs11345097
NM_001077365.2(POMT1):c.1826-248T>C rs7870715
NM_001077365.2(POMT1):c.1826-268G>A rs61584357
NM_001077365.2(POMT1):c.1826-40G>A rs187443595
NM_001077365.2(POMT1):c.1826-6C>A rs140258585
NM_001077365.2(POMT1):c.1826-7C>A rs148180760
NM_001077365.2(POMT1):c.2004-70C>T rs10122068
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709
NM_001077365.2(POMT1):c.280+271G>A rs10448341
NM_001077365.2(POMT1):c.281-199G>A rs6597500
NM_001077365.2(POMT1):c.281-82C>T rs6597501
NM_001077365.2(POMT1):c.428-21T>C rs11243404
NM_001077365.2(POMT1):c.428-232A>G rs10793880
NM_001077365.2(POMT1):c.428-340C>T rs10901063
NM_001077365.2(POMT1):c.539+104A>G rs28447664
NM_001077365.2(POMT1):c.539+91C>T rs11999204
NM_001077365.2(POMT1):c.699+52C>T rs3887873
NM_001077365.2(POMT1):c.700-48A>G rs2018621
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732
NM_001077365.2(POMT1):c.855+175G>A rs3780259
NM_001077365.2(POMT1):c.855+225A>G rs117287406
NM_001077365.2(POMT1):c.856-299T>A rs10901064
NM_001077365.2(POMT1):c.856-49T>G rs4740163
NM_001077365.2(POMT1):c.856-65G>A rs34159422
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289
NM_001077365.2(POMT1):c.986+184G>A rs10793881
NM_001077365.2(POMT1):c.986+246G>A rs3739492
NM_001077365.2(POMT1):c.986+279T>C rs3739493
NM_001077365.2(POMT1):c.986+49G>A rs10901066
NM_001077365.2(POMT1):c.987-113C>G rs10901068
NM_001077365.2(POMT1):c.987-173C>T rs10901067

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