ClinVar Miner

List of variants in gene FRMD7 studied for congenital nystagmus

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_194277.3(FRMD7):c.*665A>T rs3764771 0.32838
NM_194277.3(FRMD7):c.1533T>C (p.Ile511=) rs5977623 0.32355
NM_194277.3(FRMD7):c.*816G>A rs41312755 0.09070
NM_194277.3(FRMD7):c.1101T>C (p.Asn367=) rs7051368 0.08904
NM_194277.3(FRMD7):c.69C>T (p.Ser23=) rs5930546 0.08423
NM_194277.3(FRMD7):c.842C>T (p.Ser281Leu) rs5977625 0.06625
NM_194277.3(FRMD7):c.1403G>A (p.Arg468His) rs6637934 0.05794
NM_194277.3(FRMD7):c.383-11C>T rs56029310 0.02920
NM_194277.3(FRMD7):c.*434C>T rs5975315 0.02249
NM_194277.3(FRMD7):c.1558C>G (p.His520Asp) rs61742429 0.00645
NM_194277.3(FRMD7):c.1473G>T (p.Met491Ile) rs181962233 0.00249
NM_194277.3(FRMD7):c.*600C>G rs750133372 0.00247
NM_194277.3(FRMD7):c.*730A>G rs41300293 0.00231
NM_194277.3(FRMD7):c.*573G>T rs963218129 0.00064
NM_194277.3(FRMD7):c.383-14T>C rs373900493 0.00062
NM_194277.3(FRMD7):c.-14C>T rs200222913 0.00054
NM_194277.3(FRMD7):c.284+10T>G rs6634867 0.00027
NM_194277.3(FRMD7):c.*685T>C rs188431168 0.00018
NM_194277.3(FRMD7):c.1643A>C (p.Gln548Pro) rs776519156 0.00012
NM_194277.3(FRMD7):c.*285C>T rs766974170 0.00009
NM_194277.3(FRMD7):c.458G>A (p.Cys153Tyr) rs199857416 0.00009
NM_194277.3(FRMD7):c.*196G>C rs1057515770 0.00006
NM_194277.3(FRMD7):c.718A>G (p.Ile240Val) rs773037705 0.00006
NM_194277.3(FRMD7):c.1481A>G (p.Gln494Arg) rs199576118 0.00004
NM_194277.3(FRMD7):c.1799G>A (p.Arg600His) rs751994722 0.00004
NM_194277.3(FRMD7):c.*300T>C rs1029630139 0.00003
NM_194277.3(FRMD7):c.1200G>A (p.Ala400=) rs61751728 0.00003
NM_194277.3(FRMD7):c.157A>G (p.Asn53Asp) rs946251964 0.00003
NM_194277.3(FRMD7):c.1588C>T (p.Pro530Ser) rs200651852 0.00003
NM_194277.3(FRMD7):c.992A>G (p.Gln331Arg) rs773298405 0.00003
NM_194277.3(FRMD7):c.875T>C (p.Leu292Pro) rs192346335 0.00002
NM_194277.3(FRMD7):c.1003C>T (p.Arg335Ter) rs137852208 0.00001
NM_194277.3(FRMD7):c.1646T>A (p.Val549Glu) rs1308080722 0.00001
NM_194277.3(FRMD7):c.285-3C>T rs750320516 0.00001
NM_194277.3(FRMD7):c.308A>C (p.Lys103Thr) rs759784671 0.00001
NM_194277.3(FRMD7):c.425T>G (p.Leu142Arg) rs137852211 0.00001
NM_194277.3(FRMD7):c.58-6G>A rs750979330 0.00001
NM_194277.3(FRMD7):c.691T>G (p.Leu231Val) rs387906720 0.00001
NM_194277.3(FRMD7):c.*293G>C rs1057515769
NM_194277.3(FRMD7):c.*827T>A rs184089624
NM_194277.3(FRMD7):c.-100G>T rs1057515772
NM_194277.3(FRMD7):c.-102G>A rs1057515773
NM_194277.3(FRMD7):c.1050+1G>C rs1927753913
NM_194277.3(FRMD7):c.1050+5G>A rs1602791884
NM_194277.3(FRMD7):c.1275_1276del (p.Glu426fs) rs2124209414
NM_194277.3(FRMD7):c.205+2T>G rs1928435502
NM_194277.3(FRMD7):c.252G>A (p.Val84=) rs137852209
NM_194277.3(FRMD7):c.285-12A>G rs1486391487
NM_194277.3(FRMD7):c.384A>G (p.Ser128=) rs1927977937
NM_194277.3(FRMD7):c.38AGA[1] (p.Lys14del) rs1929191668
NM_194277.3(FRMD7):c.556A>G (p.Met186Val) rs786205896
NM_194277.3(FRMD7):c.601C>T (p.Gln201Ter) rs137852207
NM_194277.3(FRMD7):c.685C>G (p.Arg229Gly) rs137852212
NM_194277.3(FRMD7):c.70G>A (p.Gly24Arg) rs137852210
NM_194277.3(FRMD7):c.781C>T (p.Arg261Ter) rs1927850772
NM_194277.3(FRMD7):c.810T>G (p.Thr270=)
NM_194277.3(FRMD7):c.812G>A (p.Cys271Tyr) rs387906721
NM_194277.3(FRMD7):c.832T>C (p.Phe278Leu)
NM_194277.3(FRMD7):c.886G>T (p.Gly296Cys)
NM_194277.3(FRMD7):c.904A>C (p.Ser302Arg) rs1057515771

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