List of variants in gene ARMC9 reported as likely pathogenic for Familial aplasia of the vermis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys)	rs759799287	0.00011
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg)	rs750247691	0.00002
NM_001352754.2(ARMC9):c.1336C>T (p.Arg446Cys)	rs753432312	0.00001
NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg)	rs780265931	0.00001
NM_001352754.2(ARMC9):c.1027C>A (p.Arg343Ser)	rs759799287
NM_001352754.2(ARMC9):c.1474+1G>C	rs1114167448
NM_001352754.2(ARMC9):c.1559C>T (p.Pro520Leu)	rs1114167449
NM_001352754.2(ARMC9):c.259C>T (p.Arg87Ter)	rs372770167
NM_001352754.2(ARMC9):c.51+5G>T	rs1114167447
NM_025139.4(ARMC9):c.1211_1334del

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