List of variants in gene MTPAP reported as uncertain significance for Spastic ataxia 4

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_018109.4(MTPAP):c.346G>A (p.Val116Ile)	rs560622337	0.00009
NM_018109.4(MTPAP):c.468G>C (p.Gln156His)	rs547303023	0.00003
NM_018109.4(MTPAP):c.842C>G (p.Thr281Ser)	rs771770775	0.00001
NM_018109.4(MTPAP):c.1283T>C (p.Ile428Thr)
NM_018109.4(MTPAP):c.1468G>T (p.Val490Leu)	rs1057518710
NM_018109.4(MTPAP):c.1567C>T (p.Arg523Trp)
NM_018109.4(MTPAP):c.1673T>C (p.Leu558Pro)	rs761755004

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