ClinVar Miner

List of variants in gene SMCHD1 reported as pathogenic by Invitae

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_015295.3(SMCHD1):c.1040+1G>A rs1245372794 0.00001
NM_015295.3(SMCHD1):c.1654C>T (p.Arg552Ter) rs1224850132 0.00001
NC_000018.9:g.(?_2656075)_(2656280_?)del
NC_000018.9:g.(?_2656075)_(2688765_?)del
NC_000018.9:g.(?_2666136)_(2667050_?)del
NM_015295.3(SMCHD1):c.1030C>T (p.Arg344Ter) rs886041918
NM_015295.3(SMCHD1):c.1186C>T (p.Gln396Ter) rs377471712
NM_015295.3(SMCHD1):c.1199del (p.Gln400fs)
NM_015295.3(SMCHD1):c.1282del (p.Arg428fs) rs2143155004
NM_015295.3(SMCHD1):c.1314_1317del (p.Tyr439fs)
NM_015295.3(SMCHD1):c.1396A>T (p.Arg466Ter) rs2143182200
NM_015295.3(SMCHD1):c.1647+3A>G rs2143184995
NM_015295.3(SMCHD1):c.1886dup (p.Arg630fs) rs2143233837
NM_015295.3(SMCHD1):c.2078dup (p.Leu693fs) rs2143255337
NM_015295.3(SMCHD1):c.2178_2179del (p.Glu728fs) rs2074555124
NM_015295.3(SMCHD1):c.2335dup (p.Met779fs)
NM_015295.3(SMCHD1):c.261del (p.Phe87fs) rs2143801614
NM_015295.3(SMCHD1):c.2656C>T (p.Arg886Ter)
NM_015295.3(SMCHD1):c.2732T>G (p.Leu911Ter) rs2143438994
NM_015295.3(SMCHD1):c.3019C>T (p.Gln1007Ter)
NM_015295.3(SMCHD1):c.3234_3235del (p.Glu1080fs) rs2075160048
NM_015295.3(SMCHD1):c.3272_3275del (p.Ile1091fs) rs2075161300
NM_015295.3(SMCHD1):c.3274_3276+1del rs2075161459
NM_015295.3(SMCHD1):c.3276_3276+4del rs1555642277
NM_015295.3(SMCHD1):c.340C>T (p.Arg114Ter) rs2143805963
NM_015295.3(SMCHD1):c.3434del (p.Pro1145fs) rs2075307655
NM_015295.3(SMCHD1):c.3484C>T (p.Gln1162Ter) rs1555644339
NM_015295.3(SMCHD1):c.3736C>T (p.Arg1246Ter) rs924153704
NM_015295.3(SMCHD1):c.3772_3773insA (p.Leu1258fs) rs2143570702
NM_015295.3(SMCHD1):c.3784_3788del (p.Trp1262fs)
NM_015295.3(SMCHD1):c.3786G>A (p.Trp1262Ter)
NM_015295.3(SMCHD1):c.3938C>G (p.Ser1313Ter)
NM_015295.3(SMCHD1):c.4104del (p.Val1369fs) rs1555647265
NM_015295.3(SMCHD1):c.4231dup (p.Ser1411fs) rs2075566961
NM_015295.3(SMCHD1):c.444_447del (p.Ile149fs)
NM_015295.3(SMCHD1):c.4566G>A (p.Thr1522=) rs1598416221
NM_015295.3(SMCHD1):c.4821dup (p.Ile1608fs) rs1568350731
NM_015295.3(SMCHD1):c.5383C>T (p.Arg1795Ter) rs867694014
NM_015295.3(SMCHD1):c.87C>A (p.Tyr29Ter) rs2073049380

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