ClinVar Miner

List of variants studied for Huntington disease-like 1 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000311.3(PRNP):c.204_227del24 (p.Pro84_Gln91del) rs193922906
NM_000311.4(PRNP):c.593T>C (p.Phe198Ser) rs74315405
NM_000311.5(PRNP):c.160G>A (p.Gly54Ser) rs763524380
NM_000311.5(PRNP):c.228C>T (p.Pro76=) rs112637437
NM_000311.5(PRNP):c.246A>G (p.Gly82=) rs62643364
NM_000311.5(PRNP):c.246_269del (p.60_67PHGGGWGQ[3]) rs138688873
NM_000311.5(PRNP):c.351A>G (p.Ala117=) rs8124214
NM_000311.5(PRNP):c.462G>A (p.Met154Ile)
NM_000311.5(PRNP):c.512A>G (p.Asn171Ser) rs16990018
NM_000311.5(PRNP):c.598G>A (p.Glu200Lys) rs28933385
NM_000311.5(PRNP):c.628G>A (p.Val210Ile) rs74315407

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