ClinVar Miner

List of variants studied for arrhinia-choanal atresia-microphthalmia syndrome

Included ClinVar conditions (2):
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_015295.3(SMCHD1):c.4967-15G>T rs300291 0.98262
NM_015295.3(SMCHD1):c.2122G>A (p.Val708Ile) rs2276092 0.71166
NM_015295.3(SMCHD1):c.1851A>G (p.Thr617=) rs635132 0.60549
NM_015295.3(SMCHD1):c.3425+37C>T rs8094260 0.33927
NM_015295.3(SMCHD1):c.1843-17T>A rs8090988 0.32584
NM_015295.3(SMCHD1):c.3528A>G (p.Thr1176=) rs12327477 0.28781
NM_015295.3(SMCHD1):c.4137A>G (p.Ala1379=) rs2304859 0.28776
NM_015295.3(SMCHD1):c.3277-42_3277-39dup rs10638660 0.28675
NM_015295.3(SMCHD1):c.5476+10A>G rs3213926 0.28248
NM_015295.3(SMCHD1):c.5548-43_5548-40del rs35853884 0.24521
NM_015295.3(SMCHD1):c.2338+32A>G rs62084229 0.19102
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile) rs147034750 0.00303
NM_015295.3(SMCHD1):c.1132-14C>T rs184510956 0.00053
NM_015295.3(SMCHD1):c.3527C>T (p.Thr1176Ile) rs553452960 0.00025
NM_015295.3(SMCHD1):c.4316A>G (p.Asn1439Ser) rs767898877 0.00001
NM_015295.3(SMCHD1):c.5798T>A (p.Leu1933His) rs1405560459 0.00001
NM_015295.3(SMCHD1):c.1034A>G (p.Gln345Arg) rs1057519639
NM_015295.3(SMCHD1):c.1043A>G (p.His348Arg) rs1057519640
NM_015295.3(SMCHD1):c.1199A>T (p.Gln400Leu) rs1057519642
NM_015295.3(SMCHD1):c.1259A>T (p.Asp420Val) rs1135402742
NM_015295.3(SMCHD1):c.1417G>C (p.Glu473Gln) rs1135402743
NM_015295.3(SMCHD1):c.1504C>G (p.Pro502Ala) rs1355109257
NM_015295.3(SMCHD1):c.1568C>A (p.Thr523Lys) rs1135402744
NM_015295.3(SMCHD1):c.1571A>G (p.Asn524Ser) rs1135402745
NM_015295.3(SMCHD1):c.1655G>A (p.Arg552Gln) rs886042392
NM_015295.3(SMCHD1):c.174G>C (p.Ala58=) rs2430853
NM_015295.3(SMCHD1):c.2972G>A (p.Ser991Asn) rs2075090484
NM_015295.3(SMCHD1):c.320T>C (p.Leu107Pro) rs1135402737
NM_015295.3(SMCHD1):c.3527_3528inv (p.Thr1176Met)
NM_015295.3(SMCHD1):c.386T>A (p.Met129Lys) rs1135402738
NM_015295.3(SMCHD1):c.403A>T (p.Ser135Cys) rs1057519645
NM_015295.3(SMCHD1):c.404G>A (p.Ser135Asn) rs1057519646
NM_015295.3(SMCHD1):c.404G>T (p.Ser135Ile) rs1057519646
NM_015295.3(SMCHD1):c.408A>C (p.Glu136Asp) rs1057519643
NM_015295.3(SMCHD1):c.410G>A (p.Gly137Glu) rs1057519644
NM_015295.3(SMCHD1):c.415A>C (p.Asn139His) rs1135402739
NM_015295.3(SMCHD1):c.423G>C (p.Leu141Phe) rs1057519641
NM_015295.3(SMCHD1):c.423G>T (p.Leu141Phe) rs1057519641
NM_015295.3(SMCHD1):c.4823T>G (p.Ile1608Ser) rs2075942900
NM_015295.3(SMCHD1):c.5052+33dup rs3214732
NM_015295.3(SMCHD1):c.511T>G (p.Phe171Val) rs1135402740
NM_015295.3(SMCHD1):c.5572A>G (p.Thr1858Ala)
NM_015295.3(SMCHD1):c.725C>G (p.Ala242Gly) rs1135402741

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