ClinVar Miner

Variants in gene PRDM16 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
NM_022114.4(PRDM16):c.2786C>A (p.Pro929His) rs145632008 0.00063
NM_022114.4(PRDM16):c.934G>A (p.Asp312Asn) rs191798831 0.00060
NM_022114.4(PRDM16):c.38-14G>A rs368409902 0.00058
NM_022114.4(PRDM16):c.2449G>A (p.Gly817Ser) rs375308440 0.00057
NM_022114.4(PRDM16):c.553A>G (p.Met185Val) rs376567517 0.00053
NM_022114.4(PRDM16):c.481A>G (p.Asn161Asp) rs374664141 0.00048
NM_022114.4(PRDM16):c.2576C>T (p.Ser859Leu) rs370046582 0.00045
NM_022114.4(PRDM16):c.1093G>T (p.Ala365Ser) rs200562747 0.00035
NM_022114.4(PRDM16):c.2281G>A (p.Ala761Thr) rs200947814 0.00029
NM_022114.4(PRDM16):c.1882G>A (p.Asp628Asn) rs199895459 0.00026
NM_022114.4(PRDM16):c.1187-10G>C rs201517837 0.00014
NM_022114.4(PRDM16):c.1574G>A (p.Arg525Gln) rs373011563 0.00013
NM_022114.4(PRDM16):c.2223G>A (p.Thr741=) rs756779855 0.00010
NM_022114.4(PRDM16):c.171C>T (p.Ser57=) rs369648897 0.00004
NM_022114.4(PRDM16):c.3270G>A (p.Thr1090=) rs375314464 0.00004
NM_022114.4(PRDM16):c.1807G>A (p.Asp603Asn) rs199984813 0.00001
NM_022114.4(PRDM16):c.2067C>T (p.Ala689=) rs371813954 0.00001
NM_022114.4(PRDM16):c.2169G>A (p.Ser723=) rs775363690 0.00001
NM_022114.4(PRDM16):c.2809C>G (p.Pro937Ala) rs374972823
NM_022114.4(PRDM16):c.2815C>G (p.Leu939Val) rs150022595

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