ClinVar Miner

List of variants in gene PIGT reported as likely benign for Multiple congenital anomalies-hypotonia-seizures syndrome 3

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Gene type:
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Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_015937.6(PIGT):c.367G>T (p.Val123Leu) rs141420243 0.00626
NM_015937.6(PIGT):c.1067G>A (p.Arg356Gln) rs139366969 0.00215
NM_015937.6(PIGT):c.531G>A (p.Pro177=) rs138301099 0.00078
NM_015937.6(PIGT):c.806C>T (p.Thr269Met) rs149740779 0.00073
NM_015937.6(PIGT):c.918C>T (p.Asp306=) rs145469946 0.00071
NM_015937.6(PIGT):c.1038C>A (p.Ala346=) rs141166012 0.00043
NM_015937.6(PIGT):c.1707C>T (p.Ile569=) rs201975150 0.00039
NM_015937.6(PIGT):c.753G>A (p.Thr251=) rs374179368 0.00014
NM_015937.6(PIGT):c.494-5C>T rs201944222 0.00011
NM_015937.6(PIGT):c.634C>T (p.His212Tyr) rs574183358 0.00009
NM_015937.6(PIGT):c.306C>T (p.Pro102=) rs201701603 0.00007
NM_015937.6(PIGT):c.864C>T (p.Asn288=) rs35320070 0.00006
NM_015937.6(PIGT):c.1033+15G>C rs1183959983 0.00004
NM_015937.6(PIGT):c.1164C>T (p.Thr388=) rs147511743 0.00004
NM_015937.6(PIGT):c.1581C>T (p.Asn527=) rs201928497 0.00004
NM_015937.6(PIGT):c.1659C>T (p.Ile553=) rs776332148 0.00004
NM_015937.6(PIGT):c.1554G>A (p.Pro518=) rs758598966 0.00003
NM_015937.6(PIGT):c.868-10G>A rs752291543 0.00003
NM_015937.6(PIGT):c.1305G>A (p.Pro435=) rs144302866 0.00002
NM_015937.6(PIGT):c.417C>T (p.Cys139=) rs150090118 0.00002
NM_015937.6(PIGT):c.438C>T (p.Asp146=) rs747705835 0.00002
NM_015937.6(PIGT):c.1034-5C>A rs1378224236 0.00001
NM_015937.6(PIGT):c.1425G>T (p.Val475=) rs1008866401 0.00001
NM_015937.6(PIGT):c.1680C>G (p.Gly560=) rs1990710773 0.00001
NM_015937.6(PIGT):c.188-12C>T rs1989983670 0.00001
NM_015937.6(PIGT):c.204C>T (p.Leu68=) rs761696215 0.00001
NM_015937.6(PIGT):c.819C>G (p.Pro273=) rs993697819 0.00001
NM_015937.6(PIGT):c.957C>T (p.Asp319=) rs766725081 0.00001
NM_015937.6(PIGT):c.1002C>T (p.Ile334=)
NM_015937.6(PIGT):c.1008C>T (p.Leu336=)
NM_015937.6(PIGT):c.1033+20G>T
NM_015937.6(PIGT):c.1059T>C (p.His353=)
NM_015937.6(PIGT):c.1071C>T (p.Tyr357=) rs1375716987
NM_015937.6(PIGT):c.108C>T (p.Ile36=)
NM_015937.6(PIGT):c.1125C>T (p.Thr375=)
NM_015937.6(PIGT):c.1153C>T (p.Leu385=)
NM_015937.6(PIGT):c.1155G>A (p.Leu385=)
NM_015937.6(PIGT):c.1197C>G (p.Thr399=) rs2145455443
NM_015937.6(PIGT):c.1200C>T (p.Leu400=)
NM_015937.6(PIGT):c.1234+7A>T rs1362621530
NM_015937.6(PIGT):c.1235-15C>T
NM_015937.6(PIGT):c.1257C>T (p.Ala419=)
NM_015937.6(PIGT):c.1266G>A (p.Arg422=)
NM_015937.6(PIGT):c.1284G>A (p.Leu428=)
NM_015937.6(PIGT):c.1350G>A (p.Leu450=) rs1600823044
NM_015937.6(PIGT):c.135C>T (p.Ala45=) rs1203306715
NM_015937.6(PIGT):c.1362C>T (p.Thr454=)
NM_015937.6(PIGT):c.1400+15C>A
NM_015937.6(PIGT):c.1407T>G (p.Ser469=)
NM_015937.6(PIGT):c.1440A>T (p.Ala480=)
NM_015937.6(PIGT):c.1484+18C>T rs1238761958
NM_015937.6(PIGT):c.1502G>A (p.Gly501Asp)
NM_015937.6(PIGT):c.1560G>A (p.Pro520=)
NM_015937.6(PIGT):c.1575C>G (p.Pro525=)
NM_015937.6(PIGT):c.1578C>T (p.Tyr526=)
NM_015937.6(PIGT):c.1611C>T (p.Ala537=)
NM_015937.6(PIGT):c.1641C>T (p.Leu547=)
NM_015937.6(PIGT):c.1650C>T (p.Thr550=)
NM_015937.6(PIGT):c.1683G>A (p.Leu561=)
NM_015937.6(PIGT):c.1713C>A (p.Arg571=)
NM_015937.6(PIGT):c.25C>T (p.Leu9=)
NM_015937.6(PIGT):c.264A>G (p.Ser88=)
NM_015937.6(PIGT):c.273A>G (p.Gln91=)
NM_015937.6(PIGT):c.365+13C>G
NM_015937.6(PIGT):c.365+13C>T
NM_015937.6(PIGT):c.365+17G>T
NM_015937.6(PIGT):c.366-17T>C
NM_015937.6(PIGT):c.366-8C>T
NM_015937.6(PIGT):c.435C>T (p.Ile145=)
NM_015937.6(PIGT):c.471C>T (p.Phe157=)
NM_015937.6(PIGT):c.484C>T (p.Leu162=)
NM_015937.6(PIGT):c.489C>T (p.Ala163=)
NM_015937.6(PIGT):c.493+11C>A
NM_015937.6(PIGT):c.493+12C>T
NM_015937.6(PIGT):c.493+16C>T
NM_015937.6(PIGT):c.494-16C>T
NM_015937.6(PIGT):c.543C>T (p.Val181=)
NM_015937.6(PIGT):c.573G>A (p.Lys191=)
NM_015937.6(PIGT):c.594+9G>A rs375333648
NM_015937.6(PIGT):c.595-10T>A
NM_015937.6(PIGT):c.595-5_595-3del
NM_015937.6(PIGT):c.612_613delinsTT (p.Leu204_Leu205=) rs1990214691
NM_015937.6(PIGT):c.681+18G>A
NM_015937.6(PIGT):c.681+8A>G
NM_015937.6(PIGT):c.6G>C (p.Ala2=) rs1041711313
NM_015937.6(PIGT):c.70G>A (p.Glu24Lys)
NM_015937.6(PIGT):c.770-14G>A
NM_015937.6(PIGT):c.770-15C>T
NM_015937.6(PIGT):c.770-9G>T
NM_015937.6(PIGT):c.777C>T (p.Ser259=) rs764520337
NM_015937.6(PIGT):c.807G>A (p.Thr269=)
NM_015937.6(PIGT):c.81C>G (p.Arg27=)
NM_015937.6(PIGT):c.837A>T (p.Arg279=)
NM_015937.6(PIGT):c.848A>T (p.Asp283Val) rs574857016
NM_015937.6(PIGT):c.873C>T (p.Asn291=)
NM_015937.6(PIGT):c.879A>G (p.Thr293=)

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