ClinVar Miner

List of variants reported as likely benign for Peters plus syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_194318.4(B3GLCT):c.1371A>G (p.Gln457=) rs114941150 0.00147
NM_194318.4(B3GLCT):c.1207G>A (p.Val403Ile) rs147485868 0.00128
NM_194318.4(B3GLCT):c.450C>A (p.Asp150Glu) rs141743580 0.00113
NM_194318.4(B3GLCT):c.850+11G>A rs199615610 0.00076
NM_194318.4(B3GLCT):c.1065-19G>T rs28668251 0.00064
NM_194318.4(B3GLCT):c.288C>T (p.Leu96=) rs9542305 0.00055
NM_194318.4(B3GLCT):c.1330-5T>C rs377657178 0.00031
NM_194318.4(B3GLCT):c.954T>C (p.Asn318=) rs113489803 0.00028
NM_194318.4(B3GLCT):c.1104C>T (p.Ser368=) rs114425388 0.00018
NM_194318.4(B3GLCT):c.537A>C (p.Thr179=) rs756907968 0.00016
NM_194318.4(B3GLCT):c.170G>C (p.Gly57Ala) rs577136660 0.00015
NM_194318.4(B3GLCT):c.1404C>T (p.Ile468=) rs372748811 0.00014
NM_194318.4(B3GLCT):c.460-8T>A rs761519440 0.00011
NM_194318.4(B3GLCT):c.661-7G>A rs371488075 0.00011
NM_194318.4(B3GLCT):c.180C>T (p.Phe60=) rs370978491 0.00006
NM_194318.4(B3GLCT):c.1173G>A (p.Thr391=) rs369715616 0.00005
NM_194318.4(B3GLCT):c.336G>A (p.Pro112=) rs751146291 0.00002
NM_194318.4(B3GLCT):c.1144C>T (p.Leu382=) rs771937233 0.00001
NM_194318.4(B3GLCT):c.264T>C (p.Leu88=) rs751441354 0.00001
NM_194318.4(B3GLCT):c.297T>C (p.His99=) rs368693579 0.00001
NM_194318.4(B3GLCT):c.347+15C>T rs780562438 0.00001
NM_194318.4(B3GLCT):c.1140C>T (p.Tyr380=)
NM_194318.4(B3GLCT):c.1185-6C>A
NM_194318.4(B3GLCT):c.1191C>T (p.Val397=)
NM_194318.4(B3GLCT):c.1194C>T (p.Phe398=)
NM_194318.4(B3GLCT):c.120+10C>A
NM_194318.4(B3GLCT):c.1206C>T (p.Ala402=)
NM_194318.4(B3GLCT):c.1221C>T (p.Leu407=)
NM_194318.4(B3GLCT):c.1299C>A (p.Ile433=)
NM_194318.4(B3GLCT):c.1318C>G (p.Leu440Val) rs142935066
NM_194318.4(B3GLCT):c.1330-15C>G
NM_194318.4(B3GLCT):c.1330-18T>C
NM_194318.4(B3GLCT):c.1330-19CT[2]
NM_194318.4(B3GLCT):c.1338G>A (p.Pro446=)
NM_194318.4(B3GLCT):c.1383G>A (p.Ser461=)
NM_194318.4(B3GLCT):c.160+19T>A rs775283192
NM_194318.4(B3GLCT):c.161-14T>G
NM_194318.4(B3GLCT):c.270+10G>A
NM_194318.4(B3GLCT):c.270+15C>G rs1336731357
NM_194318.4(B3GLCT):c.270+9C>T rs567259766
NM_194318.4(B3GLCT):c.273G>A (p.Glu91=)
NM_194318.4(B3GLCT):c.348-8T>C rs1871262659
NM_194318.4(B3GLCT):c.384T>A (p.Ile128=)
NM_194318.4(B3GLCT):c.460-10del rs760674958
NM_194318.4(B3GLCT):c.585A>G (p.Pro195=)
NM_194318.4(B3GLCT):c.596+10T>C rs2137830622
NM_194318.4(B3GLCT):c.606G>A (p.Lys202=)
NM_194318.4(B3GLCT):c.660+10G>A
NM_194318.4(B3GLCT):c.661-7G>T rs371488075
NM_194318.4(B3GLCT):c.666C>G (p.Ala222=)
NM_194318.4(B3GLCT):c.70+14G>A
NM_194318.4(B3GLCT):c.705C>T (p.Thr235=)
NM_194318.4(B3GLCT):c.71-5_71-4del
NM_194318.4(B3GLCT):c.738C>T (p.Asp246=)
NM_194318.4(B3GLCT):c.744C>T (p.Tyr248=) rs761109871
NM_194318.4(B3GLCT):c.774G>A (p.Pro258=)
NM_194318.4(B3GLCT):c.903T>C (p.Tyr301=)
NM_194318.4(B3GLCT):c.924C>G (p.Ser308=) rs1047354805
NM_194318.4(B3GLCT):c.964+13T>A
NM_194318.4(B3GLCT):c.964+14_964+16del

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