List of variants reported as uncertain significance for Peters plus syndrome

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

Total variants: 103

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HGVS	dbSNP	gnomAD frequency
NM_194318.4(B3GLCT):c.*813A>G	rs148632976	0.00271
NM_194318.4(B3GLCT):c.*158G>A	rs543066424	0.00240
NM_194318.4(B3GLCT):c.1329+6G>T	rs200460848	0.00150
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.*669G>A	rs373155178	0.00120
NM_194318.4(B3GLCT):c.39G>C (p.Pro13=)	rs753313963	0.00116
NM_194318.4(B3GLCT):c.*127G>A	rs181325514	0.00115
NM_194318.4(B3GLCT):c.*1612A>T	rs139632638	0.00082
NM_194318.4(B3GLCT):c.850+11G>A	rs199615610	0.00076
NM_194318.4(B3GLCT):c.*755T>G	rs533230330	0.00063
NM_194318.4(B3GLCT):c.288C>T (p.Leu96=)	rs9542305	0.00055
NM_194318.4(B3GLCT):c.*888T>A	rs890281801	0.00052
NM_194318.4(B3GLCT):c.*751A>G	rs762054049	0.00029
NM_194318.4(B3GLCT):c.*1698C>T	rs534963508	0.00023
NM_194318.4(B3GLCT):c.1010G>A (p.Arg337His)	rs199794968	0.00022
NM_194318.4(B3GLCT):c.181G>A (p.Val61Ile)	rs375667011	0.00021
NM_194318.4(B3GLCT):c.*1545C>T	rs185506947	0.00019
NM_194318.4(B3GLCT):c.1104C>T (p.Ser368=)	rs114425388	0.00018
NM_194318.4(B3GLCT):c.56T>C (p.Leu19Pro)	rs999173078	0.00018
NM_194318.4(B3GLCT):c.129G>C (p.Glu43Asp)	rs572785989	0.00009
NM_194318.4(B3GLCT):c.344C>T (p.Pro115Leu)	rs142421716	0.00009
NM_194318.4(B3GLCT):c.*815C>T	rs756575776	0.00007
NM_194318.4(B3GLCT):c.*225G>A	rs1355762124	0.00006
NM_194318.4(B3GLCT):c.127G>A (p.Glu43Lys)	rs779035727	0.00006
NM_194318.4(B3GLCT):c.504A>G (p.Ile168Met)	rs116639305	0.00006
NM_194318.4(B3GLCT):c.71-9T>C	rs569540121	0.00006
NM_194318.4(B3GLCT):c.1447G>A (p.Glu483Lys)	rs780383474	0.00005
NM_194318.4(B3GLCT):c.932C>T (p.Thr311Ile)	rs201027107	0.00005
NM_194318.4(B3GLCT):c.*1870A>C	rs1257610214	0.00004
NM_194318.4(B3GLCT):c.17G>A (p.Cys6Tyr)	rs759120105	0.00004
NM_194318.4(B3GLCT):c.728A>G (p.Asn243Ser)	rs371506964	0.00004
NM_033163.5(FGF8):c.130C>T (p.Arg44Trp)	rs781205876	0.00003
NM_194318.4(B3GLCT):c.1372G>A (p.Val458Ile)	rs201514470	0.00003
NM_194318.4(B3GLCT):c.673A>G (p.Ile225Val)	rs766659397	0.00003
NM_194318.4(B3GLCT):c.716A>G (p.Glu239Gly)	rs367648804	0.00003
NM_194318.4(B3GLCT):c.*352A>G	rs775568066	0.00002
NM_194318.4(B3GLCT):c.*726C>T	rs1875855520	0.00002
NM_194318.4(B3GLCT):c.1185-15T>C	rs1005959700	0.00002
NM_194318.4(B3GLCT):c.1446C>T (p.Asp482=)	rs756603158	0.00002
NM_194318.4(B3GLCT):c.1451A>G (p.Asp484Gly)	rs1478212820	0.00002
NM_194318.4(B3GLCT):c.270+4C>T	rs759257291	0.00002
NM_194318.4(B3GLCT):c.335C>T (p.Pro112Leu)	rs372324692	0.00002
NM_194318.4(B3GLCT):c.87T>A (p.Ser29=)	rs148164370	0.00002
NM_194318.4(B3GLCT):c.*1449T>C	rs1257066909	0.00001
NM_194318.4(B3GLCT):c.*1719A>G	rs1427207406	0.00001
NM_194318.4(B3GLCT):c.*2373C>G	rs1416911376	0.00001
NM_194318.4(B3GLCT):c.*286T>A	rs1875832919	0.00001
NM_194318.4(B3GLCT):c.*410A>G	rs187473281	0.00001
NM_194318.4(B3GLCT):c.105G>A (p.Glu35=)	rs776159472	0.00001
NM_194318.4(B3GLCT):c.1102T>G (p.Ser368Ala)	rs1352782339	0.00001
NM_194318.4(B3GLCT):c.1127A>G (p.Glu376Gly)	rs1330750557	0.00001
NM_194318.4(B3GLCT):c.1161C>T (p.Tyr387=)	rs777629212	0.00001
NM_194318.4(B3GLCT):c.1184+3A>G	rs1338898111	0.00001
NM_194318.4(B3GLCT):c.1330-3C>T	rs371236148	0.00001
NM_194318.4(B3GLCT):c.264T>C (p.Leu88=)	rs751441354	0.00001
NM_194318.4(B3GLCT):c.28C>T (p.Leu10Phe)	rs1868555206	0.00001
NM_194318.4(B3GLCT):c.421A>G (p.Lys141Glu)	rs369251610	0.00001
NM_194318.4(B3GLCT):c.466T>A (p.Phe156Ile)	rs976708734	0.00001
NM_194318.4(B3GLCT):c.704C>T (p.Thr235Ile)	rs150444977	0.00001
NC_000013.10:g.(?_31774222)_(31860976_?)dup
NC_000013.11:g.(?_31200065)_(31286839_?)dup
NM_194318.4(B3GLCT):c.*1256G>C	rs1875890300
NM_194318.4(B3GLCT):c.*1700T>C	rs182680558
NM_194318.4(B3GLCT):c.*1752C>T	rs200044296
NM_194318.4(B3GLCT):c.*2177T>G	rs1875943447
NM_194318.4(B3GLCT):c.*2186G>A	rs534851411
NM_194318.4(B3GLCT):c.*2508T>C	rs1875960073
NM_194318.4(B3GLCT):c.*403T>A	rs1875840649
NM_194318.4(B3GLCT):c.*406A>G	rs1875840775
NM_194318.4(B3GLCT):c.*510A>G	rs1376758293
NM_194318.4(B3GLCT):c.*522G>A	rs1047407059
NM_194318.4(B3GLCT):c.*624G>A	rs996047550
NM_194318.4(B3GLCT):c.*710A>T	rs1340656434
NM_194318.4(B3GLCT):c.*881T>C	rs1875867573
NM_194318.4(B3GLCT):c.*889A>T	rs2025729
NM_194318.4(B3GLCT):c.-36C>G	rs760425381
NM_194318.4(B3GLCT):c.1027G>T (p.Ala343Ser)	rs370910355
NM_194318.4(B3GLCT):c.1064+5G>T	rs749084947
NM_194318.4(B3GLCT):c.1135G>A (p.Gly379Ser)	rs375168040
NM_194318.4(B3GLCT):c.1172C>T (p.Thr391Met)
NM_194318.4(B3GLCT):c.1324C>T (p.His442Tyr)
NM_194318.4(B3GLCT):c.1334G>A (p.Arg445Gln)
NM_194318.4(B3GLCT):c.1347C>A (p.Tyr449Ter)	rs2137957629
NM_194318.4(B3GLCT):c.1370A>G (p.Gln457Arg)	rs2137957679
NM_194318.4(B3GLCT):c.1405G>A (p.Asp469Asn)
NM_194318.4(B3GLCT):c.1405G>T (p.Asp469Tyr)	rs141036237
NM_194318.4(B3GLCT):c.1487A>G (p.Glu496Gly)	rs1875814798
NM_194318.4(B3GLCT):c.256G>T (p.Ala86Ser)	rs1870254261
NM_194318.4(B3GLCT):c.289C>T (p.Leu97Phe)
NM_194318.4(B3GLCT):c.30C>T (p.Leu10=)	rs1323011571
NM_194318.4(B3GLCT):c.35_52del (p.Pro12_Ala17del)
NM_194318.4(B3GLCT):c.434C>T (p.Thr145Ile)
NM_194318.4(B3GLCT):c.496G>A (p.Ala166Thr)
NM_194318.4(B3GLCT):c.694C>G (p.Pro232Ala)	rs890958730
NM_194318.4(B3GLCT):c.756A>G (p.Thr252=)	rs771139085
NM_194318.4(B3GLCT):c.764C>A (p.Ser255Tyr)	rs1182400359
NM_194318.4(B3GLCT):c.786G>A (p.Lys262=)	rs373860865
NM_194318.4(B3GLCT):c.856A>G (p.Ile286Val)	rs116754126
NM_194318.4(B3GLCT):c.856A>T (p.Ile286Phe)
NM_194318.4(B3GLCT):c.877A>G (p.Ser293Gly)	rs1873231431
NM_194318.4(B3GLCT):c.881_889del (p.Gln294_Ser296del)
NM_194318.4(B3GLCT):c.968A>G (p.His323Arg)	rs1566082139

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