ClinVar Miner

List of variants in gene HSD17B4 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000414.4(HSD17B4):c.1767G>T (p.Lys589Asn) rs142527052 0.00009
NM_000414.4(HSD17B4):c.58+190T>A rs1001866915 0.00006
NM_000414.4(HSD17B4):c.1216C>T (p.His406Tyr) rs371585154 0.00004
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His) rs748057401 0.00003
NM_000414.4(HSD17B4):c.1528G>A (p.Asp510Asn) rs191468413 0.00002
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443 0.00001
NM_000414.4(HSD17B4):c.280+2T>C rs770772281 0.00001
NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp) rs775766910 0.00001
NM_000414.4(HSD17B4):c.752G>A (p.Arg251Gln) rs773024366 0.00001
NM_000414.4(HSD17B4):c.1035del (p.Met346fs) rs2126780815
NM_000414.4(HSD17B4):c.1383_1384del (p.Phe462fs) rs2126814260
NM_000414.4(HSD17B4):c.2179_2180del (p.Gln727fs) rs1057519212
NM_000414.4(HSD17B4):c.2179_2183delinsAAA (p.Gln727fs) rs1057519420
NM_000414.4(HSD17B4):c.270del (p.Phe90fs) rs1276397342
NM_000414.4(HSD17B4):c.296dup (p.Asn99fs) rs1057516672
NM_000414.4(HSD17B4):c.302+1G>A rs2126689875
NM_000414.4(HSD17B4):c.346T>C (p.Trp116Arg) rs1748532789
NM_000414.4(HSD17B4):c.367C>G (p.His123Asp) rs786205574
NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter) rs2126696915
NM_000414.4(HSD17B4):c.434+1G>C rs2126696991
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) rs758055753

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