ClinVar Miner

List of variants in gene SMPX reported as likely pathogenic for X-linked nonsyndromic hearing loss

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_014332.3(SMPX):c.132+1G>A rs2147390444
NM_014332.3(SMPX):c.133-1G>A rs1060499590
NM_014332.3(SMPX):c.217del (p.Ile73fs)
NM_014332.3(SMPX):c.29del (p.Asn10fs) rs2092830420

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