ClinVar Miner

List of variants in gene DNAJC21 studied for bone marrow failure syndrome 3

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001012339.3(DNAJC21):c.1407C>G (p.Val469=) rs17244979 0.05801
NM_001012339.3(DNAJC21):c.1134A>G (p.Pro378=) rs17304200 0.05595
NM_001012339.3(DNAJC21):c.1547A>G (p.Asn516Ser) rs35999194 0.01096
NM_001012339.3(DNAJC21):c.657G>A (p.Ala219=) rs77480286 0.00666
NM_001012339.3(DNAJC21):c.1024G>A (p.Val342Met) rs144600070 0.00471
NM_001012339.3(DNAJC21):c.1186-531G>A rs112971776 0.00144
NM_001012339.3(DNAJC21):c.191+10A>G rs368399096 0.00094
NM_001012339.3(DNAJC21):c.958G>A (p.Asp320Asn) rs148374246 0.00058
NM_001012339.3(DNAJC21):c.1481G>A (p.Arg494Gln) rs146933471 0.00048
NM_001012339.3(DNAJC21):c.821G>A (p.Arg274Gln) rs77129269 0.00042
NM_001012339.3(DNAJC21):c.191+11C>T rs370030459 0.00031
NM_001012339.3(DNAJC21):c.1038A>G (p.Lys346=) rs546802579 0.00026
NM_001012339.3(DNAJC21):c.335G>A (p.Arg112His) rs191319627 0.00003
NM_001012339.3(DNAJC21):c.544C>T (p.Arg182Ter) rs771063992 0.00003
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362 0.00003
NM_001012339.3(DNAJC21):c.253A>G (p.Ser85Gly) rs765760154 0.00002
NM_001012339.3(DNAJC21):c.410T>C (p.Phe137Ser) rs752188838 0.00001
NM_001012339.3(DNAJC21):c.517C>T (p.Arg173Ter) rs150576702 0.00001
NM_001012339.3(DNAJC21):c.1004C>A (p.Ser335Ter) rs2480631479
NM_001012339.3(DNAJC21):c.100A>G (p.Lys34Glu) rs1561180439
NM_001012339.3(DNAJC21):c.1015C>T (p.Arg339Trp) rs368712421
NM_001012339.3(DNAJC21):c.1016G>A (p.Arg339Gln) rs142389949
NM_001012339.3(DNAJC21):c.1224dup (p.Gly409fs) rs765411726
NM_001012339.3(DNAJC21):c.1368del (p.Lys456fs) rs756768331
NM_001012339.3(DNAJC21):c.148C>T (p.Gln50Ter) rs2112024354
NM_001012339.3(DNAJC21):c.203A>G (p.His68Arg) rs756980585
NM_001012339.3(DNAJC21):c.316-2A>C rs2480589765
NM_001012339.3(DNAJC21):c.381delinsCTAGTGT (p.Leu127delinsPheTer) rs2480590275
NM_001012339.3(DNAJC21):c.463T>C (p.Trp155Arg) rs1580526653
NM_001012339.3(DNAJC21):c.520C>T (p.Gln174Ter) rs1561183139
NM_001012339.3(DNAJC21):c.643_644delinsTTT (p.Lys215fs) rs2112039335
NM_001012339.3(DNAJC21):c.647_666del (p.Arg216fs) rs1580526958
NM_001012339.3(DNAJC21):c.673G>T (p.Glu225Ter) rs556917839
NM_001012339.3(DNAJC21):c.793G>T (p.Glu265Ter) rs770282904
NM_001012339.3(DNAJC21):c.982del (p.Ala328fs) rs1580531090
NM_001012339.3(DNAJC21):c.983+1G>T rs368148362

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